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Items: 1 to 20 of 101

1.

rs1484757591 [Homo sapiens]
    Variant type:
    SNV
    Alleles:
    C>G [Show Flanks]
    Chromosome:
    2:207621848 (GRCh38)
    2:208486572 (GRCh37)
    Canonical SPDI:
    NC_000002.12:207621847:C:G
    Gene:
    METTL21A (Varview)
    Functional Consequence:
    missense_variant,coding_sequence_variant
    Validated:
    by frequency
    MAF:
    G=0.000004/1 (GnomAD_exomes)
    HGVS:
    NC_000002.12:g.207621848C>G, NC_000002.11:g.208486572C>G, NM_145280.7:c.217G>C, NM_145280.6:c.217G>C, NM_145280.5:c.217G>C, NM_145280.4:c.217G>C, XM_005246337.5:c.217G>C, XM_005246337.4:c.217G>C, XM_005246337.3:c.217G>C, XM_005246337.2:c.217G>C, XM_005246337.1:c.217G>C, NM_001127395.5:c.217G>C, NM_001127395.4:c.217G>C, NM_001127395.3:c.217G>C, NM_001127395.2:c.217G>C, NM_001127395.1:c.217G>C, XM_006712327.4:c.217G>C, XM_006712327.3:c.217G>C, XM_006712327.2:c.217G>C, XM_006712327.1:c.217G>C, XM_005246336.4:c.217G>C, XM_005246336.3:c.217G>C, XM_005246336.2:c.217G>C, XM_005246336.1:c.217G>C, XM_011510728.4:c.292G>C, XM_011510728.3:c.292G>C, XM_011510728.2:c.292G>C, XM_011510728.1:c.292G>C, XM_011510724.3:c.292G>C, XM_011510724.2:c.292G>C, XM_011510724.1:c.292G>C, XM_011510725.3:c.292G>C, XM_011510725.2:c.292G>C, XM_011510725.1:c.292G>C, NM_001330133.3:c.217G>C, NM_001330133.2:c.217G>C, NM_001330133.1:c.217G>C, NM_001330132.3:c.217G>C, NM_001330132.2:c.217G>C, NM_001330132.1:c.217G>C, NM_001330136.3:c.217G>C, NM_001330136.2:c.217G>C, NM_001330136.1:c.217G>C, NM_001308021.3:c.217G>C, NM_001308021.2:c.217G>C, NM_001308021.1:c.217G>C, NM_001330134.2:c.217G>C, NM_001330134.1:c.217G>C, NM_001330137.2:c.217G>C, NM_001330137.1:c.217G>C, NM_001330130.2:c.217G>C, NM_001330130.1:c.217G>C, XM_024452721.2:c.217G>C, XM_024452721.1:c.217G>C, XM_024452722.2:c.217G>C, XM_024452722.1:c.217G>C, NM_001330131.2:c.217G>C, NM_001330131.1:c.217G>C, NM_001330135.2:c.217G>C, NM_001330135.1:c.217G>C, NM_001388439.2:c.217G>C, NM_001388439.1:c.217G>C, NM_001388425.1:c.217G>C, NM_001393569.1:c.217G>C, NM_001393571.1:c.217G>C, NM_001393568.1:c.217G>C, NM_001393574.1:c.217G>C, NM_001393570.1:c.217G>C, NM_001393572.1:c.217G>C, NM_001393575.1:c.217G>C, NM_001388427.1:c.217G>C, NM_001393573.1:c.217G>C, NM_001393565.1:c.217G>C, NM_001393566.1:c.217G>C, NM_001393564.1:c.217G>C, XM_047443497.1:c.217G>C, XM_047443496.1:c.292G>C, NM_001393563.1:c.217G>C, NM_001393567.1:c.217G>C, XM_047443499.1:c.217G>C, XM_047443498.1:c.292G>C, NP_660323.3:p.Gly73Arg, XP_005246394.1:p.Gly73Arg, NP_001120867.1:p.Gly73Arg, XP_006712390.1:p.Gly73Arg, XP_005246393.1:p.Gly73Arg, XP_011509030.1:p.Gly98Arg, XP_011509026.1:p.Gly98Arg, XP_011509027.1:p.Gly98Arg, NP_001317062.1:p.Gly73Arg, NP_001317061.1:p.Gly73Arg, NP_001317065.1:p.Gly73Arg, NP_001294950.1:p.Gly73Arg, NP_001317063.1:p.Gly73Arg, NP_001317066.1:p.Gly73Arg, NP_001317059.1:p.Gly73Arg, XP_024308489.1:p.Gly73Arg, XP_024308490.1:p.Gly73Arg, NP_001317060.1:p.Gly73Arg, NP_001317064.1:p.Gly73Arg, NP_001375368.1:p.Gly73Arg, NP_001380498.1:p.Gly73Arg, NP_001380500.1:p.Gly73Arg, NP_001380497.1:p.Gly73Arg, NP_001380503.1:p.Gly73Arg, NP_001380499.1:p.Gly73Arg, NP_001380501.1:p.Gly73Arg, NP_001380504.1:p.Gly73Arg, NP_001375356.1:p.Gly73Arg, NP_001380502.1:p.Gly73Arg, NP_001380494.1:p.Gly73Arg, NP_001380495.1:p.Gly73Arg, NP_001380493.1:p.Gly73Arg, XP_047299453.1:p.Gly73Arg, XP_047299452.1:p.Gly98Arg, NP_001380492.1:p.Gly73Arg, NP_001380496.1:p.Gly73Arg, XP_047299455.1:p.Gly73Arg, XP_047299454.1:p.Gly98Arg

    2.

    rs1451325415 [Homo sapiens]
      Variant type:
      SNV
      Alleles:
      G>C,T [Show Flanks]
      Chromosome:
      2:207624371 (GRCh38)
      2:208489095 (GRCh37)
      Canonical SPDI:
      NC_000002.12:207624370:G:C,NC_000002.12:207624370:G:T
      Gene:
      METTL21A (Varview)
      Functional Consequence:
      missense_variant,coding_sequence_variant
      Validated:
      by frequency,by cluster
      MAF:
      C=0.00007/1 (TOMMO)
      HGVS:
      NC_000002.12:g.207624371G>C, NC_000002.12:g.207624371G>T, NC_000002.11:g.208489095G>C, NC_000002.11:g.208489095G>T, NM_145280.7:c.5C>G, NM_145280.7:c.5C>A, NM_145280.6:c.5C>G, NM_145280.6:c.5C>A, NM_145280.5:c.5C>G, NM_145280.5:c.5C>A, NM_145280.4:c.5C>G, NM_145280.4:c.5C>A, XM_005246337.5:c.5C>G, XM_005246337.5:c.5C>A, XM_005246337.4:c.5C>G, XM_005246337.4:c.5C>A, XM_005246337.3:c.5C>G, XM_005246337.3:c.5C>A, XM_005246337.2:c.5C>G, XM_005246337.2:c.5C>A, XM_005246337.1:c.5C>G, XM_005246337.1:c.5C>A, NM_001127395.5:c.5C>G, NM_001127395.5:c.5C>A, NM_001127395.4:c.5C>G, NM_001127395.4:c.5C>A, NM_001127395.3:c.5C>G, NM_001127395.3:c.5C>A, NM_001127395.2:c.5C>G, NM_001127395.2:c.5C>A, NM_001127395.1:c.5C>G, NM_001127395.1:c.5C>A, XM_006712327.4:c.5C>G, XM_006712327.4:c.5C>A, XM_006712327.3:c.5C>G, XM_006712327.3:c.5C>A, XM_006712327.2:c.5C>G, XM_006712327.2:c.5C>A, XM_006712327.1:c.5C>G, XM_006712327.1:c.5C>A, XM_005246336.4:c.5C>G, XM_005246336.4:c.5C>A, XM_005246336.3:c.5C>G, XM_005246336.3:c.5C>A, XM_005246336.2:c.5C>G, XM_005246336.2:c.5C>A, XM_005246336.1:c.5C>G, XM_005246336.1:c.5C>A, XM_011510728.4:c.80C>G, XM_011510728.4:c.80C>A, XM_011510728.3:c.80C>G, XM_011510728.3:c.80C>A, XM_011510728.2:c.80C>G, XM_011510728.2:c.80C>A, XM_011510728.1:c.80C>G, XM_011510728.1:c.80C>A, XM_011510724.3:c.80C>G, XM_011510724.3:c.80C>A, XM_011510724.2:c.80C>G, XM_011510724.2:c.80C>A, XM_011510724.1:c.80C>G, XM_011510724.1:c.80C>A, XM_011510725.3:c.80C>G, XM_011510725.3:c.80C>A, XM_011510725.2:c.80C>G, XM_011510725.2:c.80C>A, XM_011510725.1:c.80C>G, XM_011510725.1:c.80C>A, NM_001330133.3:c.5C>G, NM_001330133.3:c.5C>A, NM_001330133.2:c.5C>G, NM_001330133.2:c.5C>A, NM_001330133.1:c.5C>G, NM_001330133.1:c.5C>A, NM_001330132.3:c.5C>G, NM_001330132.3:c.5C>A, NM_001330132.2:c.5C>G, NM_001330132.2:c.5C>A, NM_001330132.1:c.5C>G, NM_001330132.1:c.5C>A, NM_001330136.3:c.5C>G, NM_001330136.3:c.5C>A, NM_001330136.2:c.5C>G, NM_001330136.2:c.5C>A, NM_001330136.1:c.5C>G, NM_001330136.1:c.5C>A, NM_001308021.3:c.5C>G, NM_001308021.3:c.5C>A, NM_001308021.2:c.5C>G, NM_001308021.2:c.5C>A, NM_001308021.1:c.5C>G, NM_001308021.1:c.5C>A, NM_001330134.2:c.5C>G, NM_001330134.2:c.5C>A, NM_001330134.1:c.5C>G, NM_001330134.1:c.5C>A, NM_001330137.2:c.5C>G, NM_001330137.2:c.5C>A, NM_001330137.1:c.5C>G, NM_001330137.1:c.5C>A, NM_001330130.2:c.5C>G, NM_001330130.2:c.5C>A, NM_001330130.1:c.5C>G, NM_001330130.1:c.5C>A, XM_024452721.2:c.5C>G, XM_024452721.2:c.5C>A, XM_024452721.1:c.5C>G, XM_024452721.1:c.5C>A, XM_024452722.2:c.5C>G, XM_024452722.2:c.5C>A, XM_024452722.1:c.5C>G, XM_024452722.1:c.5C>A, NM_001330131.2:c.5C>G, NM_001330131.2:c.5C>A, NM_001330131.1:c.5C>G, NM_001330131.1:c.5C>A, NM_001330135.2:c.5C>G, NM_001330135.2:c.5C>A, NM_001330135.1:c.5C>G, NM_001330135.1:c.5C>A, NM_001388439.2:c.5C>G, NM_001388439.2:c.5C>A, NM_001388439.1:c.5C>G, NM_001388439.1:c.5C>A, NM_001388425.1:c.5C>G, NM_001388425.1:c.5C>A, NM_001393569.1:c.5C>G, NM_001393569.1:c.5C>A, NM_001393571.1:c.5C>G, NM_001393571.1:c.5C>A, NM_001393568.1:c.5C>G, NM_001393568.1:c.5C>A, NM_001393574.1:c.5C>G, NM_001393574.1:c.5C>A, NM_001393570.1:c.5C>G, NM_001393570.1:c.5C>A, NM_001393572.1:c.5C>G, NM_001393572.1:c.5C>A, NM_001393575.1:c.5C>G, NM_001393575.1:c.5C>A, NM_001388427.1:c.5C>G, NM_001388427.1:c.5C>A, NM_001393573.1:c.5C>G, NM_001393573.1:c.5C>A, NM_001393565.1:c.5C>G, NM_001393565.1:c.5C>A, NM_001393566.1:c.5C>G, NM_001393566.1:c.5C>A, NM_001393564.1:c.5C>G, NM_001393564.1:c.5C>A, XM_047443497.1:c.5C>G, XM_047443497.1:c.5C>A, XM_047443496.1:c.80C>G, XM_047443496.1:c.80C>A, NM_001393563.1:c.5C>G, NM_001393563.1:c.5C>A, NM_001393567.1:c.5C>G, NM_001393567.1:c.5C>A, XM_047443499.1:c.5C>G, XM_047443499.1:c.5C>A, XM_047443498.1:c.80C>G, XM_047443498.1:c.80C>A, NP_660323.3:p.Ala2Gly, NP_660323.3:p.Ala2Asp, XP_005246394.1:p.Ala2Gly, XP_005246394.1:p.Ala2Asp, NP_001120867.1:p.Ala2Gly, NP_001120867.1:p.Ala2Asp, XP_006712390.1:p.Ala2Gly, XP_006712390.1:p.Ala2Asp, XP_005246393.1:p.Ala2Gly, XP_005246393.1:p.Ala2Asp, XP_011509030.1:p.Ala27Gly, XP_011509030.1:p.Ala27Asp, XP_011509026.1:p.Ala27Gly, XP_011509026.1:p.Ala27Asp, XP_011509027.1:p.Ala27Gly, XP_011509027.1:p.Ala27Asp, NP_001317062.1:p.Ala2Gly, NP_001317062.1:p.Ala2Asp, NP_001317061.1:p.Ala2Gly, NP_001317061.1:p.Ala2Asp, NP_001317065.1:p.Ala2Gly, NP_001317065.1:p.Ala2Asp, NP_001294950.1:p.Ala2Gly, NP_001294950.1:p.Ala2Asp, NP_001317063.1:p.Ala2Gly, NP_001317063.1:p.Ala2Asp, NP_001317066.1:p.Ala2Gly, NP_001317066.1:p.Ala2Asp, NP_001317059.1:p.Ala2Gly, NP_001317059.1:p.Ala2Asp, XP_024308489.1:p.Ala2Gly, XP_024308489.1:p.Ala2Asp, XP_024308490.1:p.Ala2Gly, XP_024308490.1:p.Ala2Asp, NP_001317060.1:p.Ala2Gly, NP_001317060.1:p.Ala2Asp, NP_001317064.1:p.Ala2Gly, NP_001317064.1:p.Ala2Asp, NP_001375368.1:p.Ala2Gly, NP_001375368.1:p.Ala2Asp, NP_001380498.1:p.Ala2Gly, NP_001380498.1:p.Ala2Asp, NP_001380500.1:p.Ala2Gly, NP_001380500.1:p.Ala2Asp, NP_001380497.1:p.Ala2Gly, NP_001380497.1:p.Ala2Asp, NP_001380503.1:p.Ala2Gly, NP_001380503.1:p.Ala2Asp, NP_001380499.1:p.Ala2Gly, NP_001380499.1:p.Ala2Asp, NP_001380501.1:p.Ala2Gly, NP_001380501.1:p.Ala2Asp, NP_001380504.1:p.Ala2Gly, NP_001380504.1:p.Ala2Asp, NP_001375356.1:p.Ala2Gly, NP_001375356.1:p.Ala2Asp, NP_001380502.1:p.Ala2Gly, NP_001380502.1:p.Ala2Asp, NP_001380494.1:p.Ala2Gly, NP_001380494.1:p.Ala2Asp, NP_001380495.1:p.Ala2Gly, NP_001380495.1:p.Ala2Asp, NP_001380493.1:p.Ala2Gly, NP_001380493.1:p.Ala2Asp, XP_047299453.1:p.Ala2Gly, XP_047299453.1:p.Ala2Asp, XP_047299452.1:p.Ala27Gly, XP_047299452.1:p.Ala27Asp, NP_001380492.1:p.Ala2Gly, NP_001380492.1:p.Ala2Asp, NP_001380496.1:p.Ala2Gly, NP_001380496.1:p.Ala2Asp, XP_047299455.1:p.Ala2Gly, XP_047299455.1:p.Ala2Asp, XP_047299454.1:p.Ala27Gly, XP_047299454.1:p.Ala27Asp

      3.

      rs1446083885 [Homo sapiens]
        Variant type:
        SNV
        Alleles:
        G>A [Show Flanks]
        Chromosome:
        2:207624301 (GRCh38)
        2:208489025 (GRCh37)
        Canonical SPDI:
        NC_000002.12:207624300:G:A
        Gene:
        METTL21A (Varview)
        Functional Consequence:
        synonymous_variant,coding_sequence_variant
        Validated:
        by frequency,by alfa,by cluster
        MAF:
        A=0./0 (ALFA)
        A=0.000004/1 (GnomAD_exomes)
        A=0.000004/1 (TOPMED)
        A=0.000007/1 (GnomAD)
        HGVS:
        NC_000002.12:g.207624301G>A, NC_000002.11:g.208489025G>A, NM_145280.7:c.75C>T, NM_145280.6:c.75C>T, NM_145280.5:c.75C>T, NM_145280.4:c.75C>T, XM_005246337.5:c.75C>T, XM_005246337.4:c.75C>T, XM_005246337.3:c.75C>T, XM_005246337.2:c.75C>T, XM_005246337.1:c.75C>T, NM_001127395.5:c.75C>T, NM_001127395.4:c.75C>T, NM_001127395.3:c.75C>T, NM_001127395.2:c.75C>T, NM_001127395.1:c.75C>T, XM_006712327.4:c.75C>T, XM_006712327.3:c.75C>T, XM_006712327.2:c.75C>T, XM_006712327.1:c.75C>T, XM_005246336.4:c.75C>T, XM_005246336.3:c.75C>T, XM_005246336.2:c.75C>T, XM_005246336.1:c.75C>T, XM_011510728.4:c.150C>T, XM_011510728.3:c.150C>T, XM_011510728.2:c.150C>T, XM_011510728.1:c.150C>T, XM_011510724.3:c.150C>T, XM_011510724.2:c.150C>T, XM_011510724.1:c.150C>T, XM_011510725.3:c.150C>T, XM_011510725.2:c.150C>T, XM_011510725.1:c.150C>T, NM_001330133.3:c.75C>T, NM_001330133.2:c.75C>T, NM_001330133.1:c.75C>T, NM_001330132.3:c.75C>T, NM_001330132.2:c.75C>T, NM_001330132.1:c.75C>T, NM_001330136.3:c.75C>T, NM_001330136.2:c.75C>T, NM_001330136.1:c.75C>T, NM_001308021.3:c.75C>T, NM_001308021.2:c.75C>T, NM_001308021.1:c.75C>T, NM_001330134.2:c.75C>T, NM_001330134.1:c.75C>T, NM_001330137.2:c.75C>T, NM_001330137.1:c.75C>T, NM_001330130.2:c.75C>T, NM_001330130.1:c.75C>T, XM_024452721.2:c.75C>T, XM_024452721.1:c.75C>T, XM_024452722.2:c.75C>T, XM_024452722.1:c.75C>T, NM_001330131.2:c.75C>T, NM_001330131.1:c.75C>T, NM_001330135.2:c.75C>T, NM_001330135.1:c.75C>T, NM_001388439.2:c.75C>T, NM_001388439.1:c.75C>T, NM_001388425.1:c.75C>T, NM_001393569.1:c.75C>T, NM_001393571.1:c.75C>T, NM_001393568.1:c.75C>T, NM_001393574.1:c.75C>T, NM_001393570.1:c.75C>T, NM_001393572.1:c.75C>T, NM_001393575.1:c.75C>T, NM_001388427.1:c.75C>T, NM_001393573.1:c.75C>T, NM_001393565.1:c.75C>T, NM_001393566.1:c.75C>T, NM_001393564.1:c.75C>T, XM_047443497.1:c.75C>T, XM_047443496.1:c.150C>T, NM_001393563.1:c.75C>T, NM_001393567.1:c.75C>T, XM_047443499.1:c.75C>T, XM_047443498.1:c.150C>T

        4.

        rs1444529427 [Homo sapiens]
          Variant type:
          SNV
          Alleles:
          G>C,T [Show Flanks]
          Chromosome:
          2:207624282 (GRCh38)
          2:208489006 (GRCh37)
          Canonical SPDI:
          NC_000002.12:207624281:G:C,NC_000002.12:207624281:G:T
          Gene:
          METTL21A (Varview)
          Functional Consequence:
          missense_variant,coding_sequence_variant
          Validated:
          by frequency,by alfa,by cluster
          MAF:
          T=0./0 (ALFA)
          T=0.000004/1 (TOPMED)
          T=0.000007/1 (GnomAD)
          HGVS:
          NC_000002.12:g.207624282G>C, NC_000002.12:g.207624282G>T, NC_000002.11:g.208489006G>C, NC_000002.11:g.208489006G>T, NM_145280.7:c.94C>G, NM_145280.7:c.94C>A, NM_145280.6:c.94C>G, NM_145280.6:c.94C>A, NM_145280.5:c.94C>G, NM_145280.5:c.94C>A, NM_145280.4:c.94C>G, NM_145280.4:c.94C>A, XM_005246337.5:c.94C>G, XM_005246337.5:c.94C>A, XM_005246337.4:c.94C>G, XM_005246337.4:c.94C>A, XM_005246337.3:c.94C>G, XM_005246337.3:c.94C>A, XM_005246337.2:c.94C>G, XM_005246337.2:c.94C>A, XM_005246337.1:c.94C>G, XM_005246337.1:c.94C>A, NM_001127395.5:c.94C>G, NM_001127395.5:c.94C>A, NM_001127395.4:c.94C>G, NM_001127395.4:c.94C>A, NM_001127395.3:c.94C>G, NM_001127395.3:c.94C>A, NM_001127395.2:c.94C>G, NM_001127395.2:c.94C>A, NM_001127395.1:c.94C>G, NM_001127395.1:c.94C>A, XM_006712327.4:c.94C>G, XM_006712327.4:c.94C>A, XM_006712327.3:c.94C>G, XM_006712327.3:c.94C>A, XM_006712327.2:c.94C>G, XM_006712327.2:c.94C>A, XM_006712327.1:c.94C>G, XM_006712327.1:c.94C>A, XM_005246336.4:c.94C>G, XM_005246336.4:c.94C>A, XM_005246336.3:c.94C>G, XM_005246336.3:c.94C>A, XM_005246336.2:c.94C>G, XM_005246336.2:c.94C>A, XM_005246336.1:c.94C>G, XM_005246336.1:c.94C>A, XM_011510728.4:c.169C>G, XM_011510728.4:c.169C>A, XM_011510728.3:c.169C>G, XM_011510728.3:c.169C>A, XM_011510728.2:c.169C>G, XM_011510728.2:c.169C>A, XM_011510728.1:c.169C>G, XM_011510728.1:c.169C>A, XM_011510724.3:c.169C>G, XM_011510724.3:c.169C>A, XM_011510724.2:c.169C>G, XM_011510724.2:c.169C>A, XM_011510724.1:c.169C>G, XM_011510724.1:c.169C>A, XM_011510725.3:c.169C>G, XM_011510725.3:c.169C>A, XM_011510725.2:c.169C>G, XM_011510725.2:c.169C>A, XM_011510725.1:c.169C>G, XM_011510725.1:c.169C>A, NM_001330133.3:c.94C>G, NM_001330133.3:c.94C>A, NM_001330133.2:c.94C>G, NM_001330133.2:c.94C>A, NM_001330133.1:c.94C>G, NM_001330133.1:c.94C>A, NM_001330132.3:c.94C>G, NM_001330132.3:c.94C>A, NM_001330132.2:c.94C>G, NM_001330132.2:c.94C>A, NM_001330132.1:c.94C>G, NM_001330132.1:c.94C>A, NM_001330136.3:c.94C>G, NM_001330136.3:c.94C>A, NM_001330136.2:c.94C>G, NM_001330136.2:c.94C>A, NM_001330136.1:c.94C>G, NM_001330136.1:c.94C>A, NM_001308021.3:c.94C>G, NM_001308021.3:c.94C>A, NM_001308021.2:c.94C>G, NM_001308021.2:c.94C>A, NM_001308021.1:c.94C>G, NM_001308021.1:c.94C>A, NM_001330134.2:c.94C>G, NM_001330134.2:c.94C>A, NM_001330134.1:c.94C>G, NM_001330134.1:c.94C>A, NM_001330137.2:c.94C>G, NM_001330137.2:c.94C>A, NM_001330137.1:c.94C>G, NM_001330137.1:c.94C>A, NM_001330130.2:c.94C>G, NM_001330130.2:c.94C>A, NM_001330130.1:c.94C>G, NM_001330130.1:c.94C>A, XM_024452721.2:c.94C>G, XM_024452721.2:c.94C>A, XM_024452721.1:c.94C>G, XM_024452721.1:c.94C>A, XM_024452722.2:c.94C>G, XM_024452722.2:c.94C>A, XM_024452722.1:c.94C>G, XM_024452722.1:c.94C>A, NM_001330131.2:c.94C>G, NM_001330131.2:c.94C>A, NM_001330131.1:c.94C>G, NM_001330131.1:c.94C>A, NM_001330135.2:c.94C>G, NM_001330135.2:c.94C>A, NM_001330135.1:c.94C>G, NM_001330135.1:c.94C>A, NM_001388439.2:c.94C>G, NM_001388439.2:c.94C>A, NM_001388439.1:c.94C>G, NM_001388439.1:c.94C>A, NM_001388425.1:c.94C>G, NM_001388425.1:c.94C>A, NM_001393569.1:c.94C>G, NM_001393569.1:c.94C>A, NM_001393571.1:c.94C>G, NM_001393571.1:c.94C>A, NM_001393568.1:c.94C>G, NM_001393568.1:c.94C>A, NM_001393574.1:c.94C>G, NM_001393574.1:c.94C>A, NM_001393570.1:c.94C>G, NM_001393570.1:c.94C>A, NM_001393572.1:c.94C>G, NM_001393572.1:c.94C>A, NM_001393575.1:c.94C>G, NM_001393575.1:c.94C>A, NM_001388427.1:c.94C>G, NM_001388427.1:c.94C>A, NM_001393573.1:c.94C>G, NM_001393573.1:c.94C>A, NM_001393565.1:c.94C>G, NM_001393565.1:c.94C>A, NM_001393566.1:c.94C>G, NM_001393566.1:c.94C>A, NM_001393564.1:c.94C>G, NM_001393564.1:c.94C>A, XM_047443497.1:c.94C>G, XM_047443497.1:c.94C>A, XM_047443496.1:c.169C>G, XM_047443496.1:c.169C>A, NM_001393563.1:c.94C>G, NM_001393563.1:c.94C>A, NM_001393567.1:c.94C>G, NM_001393567.1:c.94C>A, XM_047443499.1:c.94C>G, XM_047443499.1:c.94C>A, XM_047443498.1:c.169C>G, XM_047443498.1:c.169C>A, NP_660323.3:p.Gln32Glu, NP_660323.3:p.Gln32Lys, XP_005246394.1:p.Gln32Glu, XP_005246394.1:p.Gln32Lys, NP_001120867.1:p.Gln32Glu, NP_001120867.1:p.Gln32Lys, XP_006712390.1:p.Gln32Glu, XP_006712390.1:p.Gln32Lys, XP_005246393.1:p.Gln32Glu, XP_005246393.1:p.Gln32Lys, XP_011509030.1:p.Gln57Glu, XP_011509030.1:p.Gln57Lys, XP_011509026.1:p.Gln57Glu, XP_011509026.1:p.Gln57Lys, XP_011509027.1:p.Gln57Glu, XP_011509027.1:p.Gln57Lys, NP_001317062.1:p.Gln32Glu, NP_001317062.1:p.Gln32Lys, NP_001317061.1:p.Gln32Glu, NP_001317061.1:p.Gln32Lys, NP_001317065.1:p.Gln32Glu, NP_001317065.1:p.Gln32Lys, NP_001294950.1:p.Gln32Glu, NP_001294950.1:p.Gln32Lys, NP_001317063.1:p.Gln32Glu, NP_001317063.1:p.Gln32Lys, NP_001317066.1:p.Gln32Glu, NP_001317066.1:p.Gln32Lys, NP_001317059.1:p.Gln32Glu, NP_001317059.1:p.Gln32Lys, XP_024308489.1:p.Gln32Glu, XP_024308489.1:p.Gln32Lys, XP_024308490.1:p.Gln32Glu, XP_024308490.1:p.Gln32Lys, NP_001317060.1:p.Gln32Glu, NP_001317060.1:p.Gln32Lys, NP_001317064.1:p.Gln32Glu, NP_001317064.1:p.Gln32Lys, NP_001375368.1:p.Gln32Glu, NP_001375368.1:p.Gln32Lys, NP_001380498.1:p.Gln32Glu, NP_001380498.1:p.Gln32Lys, NP_001380500.1:p.Gln32Glu, NP_001380500.1:p.Gln32Lys, NP_001380497.1:p.Gln32Glu, NP_001380497.1:p.Gln32Lys, NP_001380503.1:p.Gln32Glu, NP_001380503.1:p.Gln32Lys, NP_001380499.1:p.Gln32Glu, NP_001380499.1:p.Gln32Lys, NP_001380501.1:p.Gln32Glu, NP_001380501.1:p.Gln32Lys, NP_001380504.1:p.Gln32Glu, NP_001380504.1:p.Gln32Lys, NP_001375356.1:p.Gln32Glu, NP_001375356.1:p.Gln32Lys, NP_001380502.1:p.Gln32Glu, NP_001380502.1:p.Gln32Lys, NP_001380494.1:p.Gln32Glu, NP_001380494.1:p.Gln32Lys, NP_001380495.1:p.Gln32Glu, NP_001380495.1:p.Gln32Lys, NP_001380493.1:p.Gln32Glu, NP_001380493.1:p.Gln32Lys, XP_047299453.1:p.Gln32Glu, XP_047299453.1:p.Gln32Lys, XP_047299452.1:p.Gln57Glu, XP_047299452.1:p.Gln57Lys, NP_001380492.1:p.Gln32Glu, NP_001380492.1:p.Gln32Lys, NP_001380496.1:p.Gln32Glu, NP_001380496.1:p.Gln32Lys, XP_047299455.1:p.Gln32Glu, XP_047299455.1:p.Gln32Lys, XP_047299454.1:p.Gln57Glu, XP_047299454.1:p.Gln57Lys

          5.

          rs1442431316 [Homo sapiens]
            Variant type:
            SNV
            Alleles:
            G>A [Show Flanks]
            Chromosome:
            2:207621915 (GRCh38)
            2:208486639 (GRCh37)
            Canonical SPDI:
            NC_000002.12:207621914:G:A
            Gene:
            METTL21A (Varview)
            Functional Consequence:
            coding_sequence_variant,synonymous_variant
            Validated:
            by frequency,by alfa,by cluster
            MAF:
            A=0.000224/1 (ALFA)
            A=0.000007/1 (GnomAD)
            A=0.000223/1 (Estonian)
            HGVS:
            NC_000002.12:g.207621915G>A, NC_000002.11:g.208486639G>A, NM_145280.7:c.150C>T, NM_145280.6:c.150C>T, NM_145280.5:c.150C>T, NM_145280.4:c.150C>T, XM_005246337.5:c.150C>T, XM_005246337.4:c.150C>T, XM_005246337.3:c.150C>T, XM_005246337.2:c.150C>T, XM_005246337.1:c.150C>T, NM_001127395.5:c.150C>T, NM_001127395.4:c.150C>T, NM_001127395.3:c.150C>T, NM_001127395.2:c.150C>T, NM_001127395.1:c.150C>T, XM_006712327.4:c.150C>T, XM_006712327.3:c.150C>T, XM_006712327.2:c.150C>T, XM_006712327.1:c.150C>T, XM_005246336.4:c.150C>T, XM_005246336.3:c.150C>T, XM_005246336.2:c.150C>T, XM_005246336.1:c.150C>T, XM_011510728.4:c.225C>T, XM_011510728.3:c.225C>T, XM_011510728.2:c.225C>T, XM_011510728.1:c.225C>T, XM_011510724.3:c.225C>T, XM_011510724.2:c.225C>T, XM_011510724.1:c.225C>T, XM_011510725.3:c.225C>T, XM_011510725.2:c.225C>T, XM_011510725.1:c.225C>T, NM_001330133.3:c.150C>T, NM_001330133.2:c.150C>T, NM_001330133.1:c.150C>T, NM_001330132.3:c.150C>T, NM_001330132.2:c.150C>T, NM_001330132.1:c.150C>T, NM_001330136.3:c.150C>T, NM_001330136.2:c.150C>T, NM_001330136.1:c.150C>T, NM_001308021.3:c.150C>T, NM_001308021.2:c.150C>T, NM_001308021.1:c.150C>T, NM_001330134.2:c.150C>T, NM_001330134.1:c.150C>T, NM_001330137.2:c.150C>T, NM_001330137.1:c.150C>T, NM_001330130.2:c.150C>T, NM_001330130.1:c.150C>T, XM_024452721.2:c.150C>T, XM_024452721.1:c.150C>T, XM_024452722.2:c.150C>T, XM_024452722.1:c.150C>T, NM_001330131.2:c.150C>T, NM_001330131.1:c.150C>T, NM_001330135.2:c.150C>T, NM_001330135.1:c.150C>T, NM_001388439.2:c.150C>T, NM_001388439.1:c.150C>T, NM_001388425.1:c.150C>T, NM_001393569.1:c.150C>T, NM_001393571.1:c.150C>T, NM_001393568.1:c.150C>T, NM_001393574.1:c.150C>T, NM_001393570.1:c.150C>T, NM_001393572.1:c.150C>T, NM_001393575.1:c.150C>T, NM_001388427.1:c.150C>T, NM_001393573.1:c.150C>T, NM_001393565.1:c.150C>T, NM_001393566.1:c.150C>T, NM_001393564.1:c.150C>T, XM_047443497.1:c.150C>T, XM_047443496.1:c.225C>T, NM_001393563.1:c.150C>T, NM_001393567.1:c.150C>T, XM_047443499.1:c.150C>T, XM_047443498.1:c.225C>T

            6.

            rs1419178651 [Homo sapiens]
              Variant type:
              SNV
              Alleles:
              C>T [Show Flanks]
              Chromosome:
              2:207621807 (GRCh38)
              2:208486531 (GRCh37)
              Canonical SPDI:
              NC_000002.12:207621806:C:T
              Gene:
              METTL21A (Varview)
              Functional Consequence:
              synonymous_variant,coding_sequence_variant
              Validated:
              by frequency
              MAF:
              T=0.000004/1 (GnomAD_exomes)
              HGVS:
              NC_000002.12:g.207621807C>T, NC_000002.11:g.208486531C>T, NM_145280.7:c.258G>A, NM_145280.6:c.258G>A, NM_145280.5:c.258G>A, NM_145280.4:c.258G>A, XM_005246337.5:c.258G>A, XM_005246337.4:c.258G>A, XM_005246337.3:c.258G>A, XM_005246337.2:c.258G>A, XM_005246337.1:c.258G>A, NM_001127395.5:c.258G>A, NM_001127395.4:c.258G>A, NM_001127395.3:c.258G>A, NM_001127395.2:c.258G>A, NM_001127395.1:c.258G>A, XM_006712327.4:c.258G>A, XM_006712327.3:c.258G>A, XM_006712327.2:c.258G>A, XM_006712327.1:c.258G>A, XM_005246336.4:c.258G>A, XM_005246336.3:c.258G>A, XM_005246336.2:c.258G>A, XM_005246336.1:c.258G>A, XM_011510728.4:c.333G>A, XM_011510728.3:c.333G>A, XM_011510728.2:c.333G>A, XM_011510728.1:c.333G>A, XM_011510724.3:c.333G>A, XM_011510724.2:c.333G>A, XM_011510724.1:c.333G>A, XM_011510725.3:c.333G>A, XM_011510725.2:c.333G>A, XM_011510725.1:c.333G>A, NM_001330133.3:c.258G>A, NM_001330133.2:c.258G>A, NM_001330133.1:c.258G>A, NM_001330132.3:c.258G>A, NM_001330132.2:c.258G>A, NM_001330132.1:c.258G>A, NM_001330136.3:c.258G>A, NM_001330136.2:c.258G>A, NM_001330136.1:c.258G>A, NM_001308021.3:c.258G>A, NM_001308021.2:c.258G>A, NM_001308021.1:c.258G>A, NM_001330134.2:c.258G>A, NM_001330134.1:c.258G>A, NM_001330137.2:c.258G>A, NM_001330137.1:c.258G>A, NM_001330130.2:c.258G>A, NM_001330130.1:c.258G>A, XM_024452721.2:c.258G>A, XM_024452721.1:c.258G>A, XM_024452722.2:c.258G>A, XM_024452722.1:c.258G>A, NM_001330131.2:c.258G>A, NM_001330131.1:c.258G>A, NM_001330135.2:c.258G>A, NM_001330135.1:c.258G>A, NM_001388439.2:c.258G>A, NM_001388439.1:c.258G>A, NM_001388425.1:c.258G>A, NM_001393569.1:c.258G>A, NM_001393571.1:c.258G>A, NM_001393568.1:c.258G>A, NM_001393574.1:c.258G>A, NM_001393570.1:c.258G>A, NM_001393572.1:c.258G>A, NM_001393575.1:c.258G>A, NM_001388427.1:c.258G>A, NM_001393573.1:c.258G>A, NM_001393565.1:c.258G>A, NM_001393566.1:c.258G>A, NM_001393564.1:c.258G>A, XM_047443497.1:c.258G>A, XM_047443496.1:c.333G>A, NM_001393563.1:c.258G>A, NM_001393567.1:c.258G>A, XM_047443499.1:c.258G>A, XM_047443498.1:c.333G>A

              7.

              rs1412348073 [Homo sapiens]
                Variant type:
                SNV
                Alleles:
                A>G,T [Show Flanks]
                Chromosome:
                2:207621829 (GRCh38)
                2:208486553 (GRCh37)
                Canonical SPDI:
                NC_000002.12:207621828:A:G,NC_000002.12:207621828:A:T
                Gene:
                METTL21A (Varview)
                Functional Consequence:
                missense_variant,coding_sequence_variant
                Validated:
                by frequency,by alfa,by cluster
                MAF:
                T=0./0 (ALFA)
                T=0.000008/2 (GnomAD_exomes)
                HGVS:
                NC_000002.12:g.207621829A>G, NC_000002.12:g.207621829A>T, NC_000002.11:g.208486553A>G, NC_000002.11:g.208486553A>T, NM_145280.7:c.236T>C, NM_145280.7:c.236T>A, NM_145280.6:c.236T>C, NM_145280.6:c.236T>A, NM_145280.5:c.236T>C, NM_145280.5:c.236T>A, NM_145280.4:c.236T>C, NM_145280.4:c.236T>A, XM_005246337.5:c.236T>C, XM_005246337.5:c.236T>A, XM_005246337.4:c.236T>C, XM_005246337.4:c.236T>A, XM_005246337.3:c.236T>C, XM_005246337.3:c.236T>A, XM_005246337.2:c.236T>C, XM_005246337.2:c.236T>A, XM_005246337.1:c.236T>C, XM_005246337.1:c.236T>A, NM_001127395.5:c.236T>C, NM_001127395.5:c.236T>A, NM_001127395.4:c.236T>C, NM_001127395.4:c.236T>A, NM_001127395.3:c.236T>C, NM_001127395.3:c.236T>A, NM_001127395.2:c.236T>C, NM_001127395.2:c.236T>A, NM_001127395.1:c.236T>C, NM_001127395.1:c.236T>A, XM_006712327.4:c.236T>C, XM_006712327.4:c.236T>A, XM_006712327.3:c.236T>C, XM_006712327.3:c.236T>A, XM_006712327.2:c.236T>C, XM_006712327.2:c.236T>A, XM_006712327.1:c.236T>C, XM_006712327.1:c.236T>A, XM_005246336.4:c.236T>C, XM_005246336.4:c.236T>A, XM_005246336.3:c.236T>C, XM_005246336.3:c.236T>A, XM_005246336.2:c.236T>C, XM_005246336.2:c.236T>A, XM_005246336.1:c.236T>C, XM_005246336.1:c.236T>A, XM_011510728.4:c.311T>C, XM_011510728.4:c.311T>A, XM_011510728.3:c.311T>C, XM_011510728.3:c.311T>A, XM_011510728.2:c.311T>C, XM_011510728.2:c.311T>A, XM_011510728.1:c.311T>C, XM_011510728.1:c.311T>A, XM_011510724.3:c.311T>C, XM_011510724.3:c.311T>A, XM_011510724.2:c.311T>C, XM_011510724.2:c.311T>A, XM_011510724.1:c.311T>C, XM_011510724.1:c.311T>A, XM_011510725.3:c.311T>C, XM_011510725.3:c.311T>A, XM_011510725.2:c.311T>C, XM_011510725.2:c.311T>A, XM_011510725.1:c.311T>C, XM_011510725.1:c.311T>A, NM_001330133.3:c.236T>C, NM_001330133.3:c.236T>A, NM_001330133.2:c.236T>C, NM_001330133.2:c.236T>A, NM_001330133.1:c.236T>C, NM_001330133.1:c.236T>A, NM_001330132.3:c.236T>C, NM_001330132.3:c.236T>A, NM_001330132.2:c.236T>C, NM_001330132.2:c.236T>A, NM_001330132.1:c.236T>C, NM_001330132.1:c.236T>A, NM_001330136.3:c.236T>C, NM_001330136.3:c.236T>A, NM_001330136.2:c.236T>C, NM_001330136.2:c.236T>A, NM_001330136.1:c.236T>C, NM_001330136.1:c.236T>A, NM_001308021.3:c.236T>C, NM_001308021.3:c.236T>A, NM_001308021.2:c.236T>C, NM_001308021.2:c.236T>A, NM_001308021.1:c.236T>C, NM_001308021.1:c.236T>A, NM_001330134.2:c.236T>C, NM_001330134.2:c.236T>A, NM_001330134.1:c.236T>C, NM_001330134.1:c.236T>A, NM_001330137.2:c.236T>C, NM_001330137.2:c.236T>A, NM_001330137.1:c.236T>C, NM_001330137.1:c.236T>A, NM_001330130.2:c.236T>C, NM_001330130.2:c.236T>A, NM_001330130.1:c.236T>C, NM_001330130.1:c.236T>A, XM_024452721.2:c.236T>C, XM_024452721.2:c.236T>A, XM_024452721.1:c.236T>C, XM_024452721.1:c.236T>A, XM_024452722.2:c.236T>C, XM_024452722.2:c.236T>A, XM_024452722.1:c.236T>C, XM_024452722.1:c.236T>A, NM_001330131.2:c.236T>C, NM_001330131.2:c.236T>A, NM_001330131.1:c.236T>C, NM_001330131.1:c.236T>A, NM_001330135.2:c.236T>C, NM_001330135.2:c.236T>A, NM_001330135.1:c.236T>C, NM_001330135.1:c.236T>A, NM_001388439.2:c.236T>C, NM_001388439.2:c.236T>A, NM_001388439.1:c.236T>C, NM_001388439.1:c.236T>A, NM_001388425.1:c.236T>C, NM_001388425.1:c.236T>A, NM_001393569.1:c.236T>C, NM_001393569.1:c.236T>A, NM_001393571.1:c.236T>C, NM_001393571.1:c.236T>A, NM_001393568.1:c.236T>C, NM_001393568.1:c.236T>A, NM_001393574.1:c.236T>C, NM_001393574.1:c.236T>A, NM_001393570.1:c.236T>C, NM_001393570.1:c.236T>A, NM_001393572.1:c.236T>C, NM_001393572.1:c.236T>A, NM_001393575.1:c.236T>C, NM_001393575.1:c.236T>A, NM_001388427.1:c.236T>C, NM_001388427.1:c.236T>A, NM_001393573.1:c.236T>C, NM_001393573.1:c.236T>A, NM_001393565.1:c.236T>C, NM_001393565.1:c.236T>A, NM_001393566.1:c.236T>C, NM_001393566.1:c.236T>A, NM_001393564.1:c.236T>C, NM_001393564.1:c.236T>A, XM_047443497.1:c.236T>C, XM_047443497.1:c.236T>A, XM_047443496.1:c.311T>C, XM_047443496.1:c.311T>A, NM_001393563.1:c.236T>C, NM_001393563.1:c.236T>A, NM_001393567.1:c.236T>C, NM_001393567.1:c.236T>A, XM_047443499.1:c.236T>C, XM_047443499.1:c.236T>A, XM_047443498.1:c.311T>C, XM_047443498.1:c.311T>A, NP_660323.3:p.Val79Ala, NP_660323.3:p.Val79Glu, XP_005246394.1:p.Val79Ala, XP_005246394.1:p.Val79Glu, NP_001120867.1:p.Val79Ala, NP_001120867.1:p.Val79Glu, XP_006712390.1:p.Val79Ala, XP_006712390.1:p.Val79Glu, XP_005246393.1:p.Val79Ala, XP_005246393.1:p.Val79Glu, XP_011509030.1:p.Val104Ala, XP_011509030.1:p.Val104Glu, XP_011509026.1:p.Val104Ala, XP_011509026.1:p.Val104Glu, XP_011509027.1:p.Val104Ala, XP_011509027.1:p.Val104Glu, NP_001317062.1:p.Val79Ala, NP_001317062.1:p.Val79Glu, NP_001317061.1:p.Val79Ala, NP_001317061.1:p.Val79Glu, NP_001317065.1:p.Val79Ala, NP_001317065.1:p.Val79Glu, NP_001294950.1:p.Val79Ala, NP_001294950.1:p.Val79Glu, NP_001317063.1:p.Val79Ala, NP_001317063.1:p.Val79Glu, NP_001317066.1:p.Val79Ala, NP_001317066.1:p.Val79Glu, NP_001317059.1:p.Val79Ala, NP_001317059.1:p.Val79Glu, XP_024308489.1:p.Val79Ala, XP_024308489.1:p.Val79Glu, XP_024308490.1:p.Val79Ala, XP_024308490.1:p.Val79Glu, NP_001317060.1:p.Val79Ala, NP_001317060.1:p.Val79Glu, NP_001317064.1:p.Val79Ala, NP_001317064.1:p.Val79Glu, NP_001375368.1:p.Val79Ala, NP_001375368.1:p.Val79Glu, NP_001380498.1:p.Val79Ala, NP_001380498.1:p.Val79Glu, NP_001380500.1:p.Val79Ala, NP_001380500.1:p.Val79Glu, NP_001380497.1:p.Val79Ala, NP_001380497.1:p.Val79Glu, NP_001380503.1:p.Val79Ala, NP_001380503.1:p.Val79Glu, NP_001380499.1:p.Val79Ala, NP_001380499.1:p.Val79Glu, NP_001380501.1:p.Val79Ala, NP_001380501.1:p.Val79Glu, NP_001380504.1:p.Val79Ala, NP_001380504.1:p.Val79Glu, NP_001375356.1:p.Val79Ala, NP_001375356.1:p.Val79Glu, NP_001380502.1:p.Val79Ala, NP_001380502.1:p.Val79Glu, NP_001380494.1:p.Val79Ala, NP_001380494.1:p.Val79Glu, NP_001380495.1:p.Val79Ala, NP_001380495.1:p.Val79Glu, NP_001380493.1:p.Val79Ala, NP_001380493.1:p.Val79Glu, XP_047299453.1:p.Val79Ala, XP_047299453.1:p.Val79Glu, XP_047299452.1:p.Val104Ala, XP_047299452.1:p.Val104Glu, NP_001380492.1:p.Val79Ala, NP_001380492.1:p.Val79Glu, NP_001380496.1:p.Val79Ala, NP_001380496.1:p.Val79Glu, XP_047299455.1:p.Val79Ala, XP_047299455.1:p.Val79Glu, XP_047299454.1:p.Val104Ala, XP_047299454.1:p.Val104Glu

                8.

                rs1411857265 [Homo sapiens]
                  Variant type:
                  SNV
                  Alleles:
                  C>T [Show Flanks]
                  Chromosome:
                  2:207582155 (GRCh38)
                  2:208446879 (GRCh37)
                  Canonical SPDI:
                  NC_000002.12:207582154:C:T
                  Gene:
                  CREB1 (Varview), METTL21A (Varview)
                  Functional Consequence:
                  missense_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,coding_sequence_variant,intron_variant
                  Validated:
                  by frequency,by alfa,by cluster
                  MAF:
                  T=0.000071/1 (ALFA)
                  T=0.000014/2 (GnomAD)
                  T=0.000015/2 (GnomAD_exomes)
                  T=0.000019/5 (TOPMED)
                  HGVS:
                  NC_000002.12:g.207582155C>T, NC_000002.11:g.208446879C>T, NG_023299.1:g.57264C>T, XM_011510648.4:c.*2589C>T, XM_017003399.3:c.*2589C>T, NM_001330133.3:c.265G>A, NM_001330133.2:c.265G>A, NM_001330133.1:c.265G>A, NM_001330131.2:c.265G>A, NM_001330131.1:c.265G>A, NM_001330135.2:c.265G>A, NM_001330135.1:c.265G>A, XM_047443438.1:c.*2589C>T, NM_001393569.1:c.319G>A, NM_001393571.1:c.301G>A, NM_001393568.1:c.355G>A, NM_001393574.1:c.265G>A, NM_001393570.1:c.319G>A, NM_001393572.1:c.301G>A, NM_001393575.1:c.265G>A, NM_001393573.1:c.265G>A, XM_047443496.1:c.394G>A, NP_001317062.1:p.Gly89Arg, NP_001317060.1:p.Gly89Arg, NP_001317064.1:p.Gly89Arg, NP_001380498.1:p.Gly107Arg, NP_001380500.1:p.Gly101Arg, NP_001380497.1:p.Gly119Arg, NP_001380503.1:p.Gly89Arg, NP_001380499.1:p.Gly107Arg, NP_001380501.1:p.Gly101Arg, NP_001380504.1:p.Gly89Arg, NP_001380502.1:p.Gly89Arg, XP_047299452.1:p.Gly132Arg

                  9.

                  rs1410703815 [Homo sapiens]
                    Variant type:
                    SNV
                    Alleles:
                    G>C [Show Flanks]
                    Chromosome:
                    2:207621859 (GRCh38)
                    2:208486583 (GRCh37)
                    Canonical SPDI:
                    NC_000002.12:207621858:G:C
                    Gene:
                    METTL21A (Varview)
                    Functional Consequence:
                    missense_variant,coding_sequence_variant
                    Validated:
                    by frequency
                    MAF:
                    C=0.000004/1 (GnomAD_exomes)
                    HGVS:
                    NC_000002.12:g.207621859G>C, NC_000002.11:g.208486583G>C, NM_145280.7:c.206C>G, NM_145280.6:c.206C>G, NM_145280.5:c.206C>G, NM_145280.4:c.206C>G, XM_005246337.5:c.206C>G, XM_005246337.4:c.206C>G, XM_005246337.3:c.206C>G, XM_005246337.2:c.206C>G, XM_005246337.1:c.206C>G, NM_001127395.5:c.206C>G, NM_001127395.4:c.206C>G, NM_001127395.3:c.206C>G, NM_001127395.2:c.206C>G, NM_001127395.1:c.206C>G, XM_006712327.4:c.206C>G, XM_006712327.3:c.206C>G, XM_006712327.2:c.206C>G, XM_006712327.1:c.206C>G, XM_005246336.4:c.206C>G, XM_005246336.3:c.206C>G, XM_005246336.2:c.206C>G, XM_005246336.1:c.206C>G, XM_011510728.4:c.281C>G, XM_011510728.3:c.281C>G, XM_011510728.2:c.281C>G, XM_011510728.1:c.281C>G, XM_011510724.3:c.281C>G, XM_011510724.2:c.281C>G, XM_011510724.1:c.281C>G, XM_011510725.3:c.281C>G, XM_011510725.2:c.281C>G, XM_011510725.1:c.281C>G, NM_001330133.3:c.206C>G, NM_001330133.2:c.206C>G, NM_001330133.1:c.206C>G, NM_001330132.3:c.206C>G, NM_001330132.2:c.206C>G, NM_001330132.1:c.206C>G, NM_001330136.3:c.206C>G, NM_001330136.2:c.206C>G, NM_001330136.1:c.206C>G, NM_001308021.3:c.206C>G, NM_001308021.2:c.206C>G, NM_001308021.1:c.206C>G, NM_001330134.2:c.206C>G, NM_001330134.1:c.206C>G, NM_001330137.2:c.206C>G, NM_001330137.1:c.206C>G, NM_001330130.2:c.206C>G, NM_001330130.1:c.206C>G, XM_024452721.2:c.206C>G, XM_024452721.1:c.206C>G, XM_024452722.2:c.206C>G, XM_024452722.1:c.206C>G, NM_001330131.2:c.206C>G, NM_001330131.1:c.206C>G, NM_001330135.2:c.206C>G, NM_001330135.1:c.206C>G, NM_001388439.2:c.206C>G, NM_001388439.1:c.206C>G, NM_001388425.1:c.206C>G, NM_001393569.1:c.206C>G, NM_001393571.1:c.206C>G, NM_001393568.1:c.206C>G, NM_001393574.1:c.206C>G, NM_001393570.1:c.206C>G, NM_001393572.1:c.206C>G, NM_001393575.1:c.206C>G, NM_001388427.1:c.206C>G, NM_001393573.1:c.206C>G, NM_001393565.1:c.206C>G, NM_001393566.1:c.206C>G, NM_001393564.1:c.206C>G, XM_047443497.1:c.206C>G, XM_047443496.1:c.281C>G, NM_001393563.1:c.206C>G, NM_001393567.1:c.206C>G, XM_047443499.1:c.206C>G, XM_047443498.1:c.281C>G, NP_660323.3:p.Ala69Gly, XP_005246394.1:p.Ala69Gly, NP_001120867.1:p.Ala69Gly, XP_006712390.1:p.Ala69Gly, XP_005246393.1:p.Ala69Gly, XP_011509030.1:p.Ala94Gly, XP_011509026.1:p.Ala94Gly, XP_011509027.1:p.Ala94Gly, NP_001317062.1:p.Ala69Gly, NP_001317061.1:p.Ala69Gly, NP_001317065.1:p.Ala69Gly, NP_001294950.1:p.Ala69Gly, NP_001317063.1:p.Ala69Gly, NP_001317066.1:p.Ala69Gly, NP_001317059.1:p.Ala69Gly, XP_024308489.1:p.Ala69Gly, XP_024308490.1:p.Ala69Gly, NP_001317060.1:p.Ala69Gly, NP_001317064.1:p.Ala69Gly, NP_001375368.1:p.Ala69Gly, NP_001380498.1:p.Ala69Gly, NP_001380500.1:p.Ala69Gly, NP_001380497.1:p.Ala69Gly, NP_001380503.1:p.Ala69Gly, NP_001380499.1:p.Ala69Gly, NP_001380501.1:p.Ala69Gly, NP_001380504.1:p.Ala69Gly, NP_001375356.1:p.Ala69Gly, NP_001380502.1:p.Ala69Gly, NP_001380494.1:p.Ala69Gly, NP_001380495.1:p.Ala69Gly, NP_001380493.1:p.Ala69Gly, XP_047299453.1:p.Ala69Gly, XP_047299452.1:p.Ala94Gly, NP_001380492.1:p.Ala69Gly, NP_001380496.1:p.Ala69Gly, XP_047299455.1:p.Ala69Gly, XP_047299454.1:p.Ala94Gly

                    10.

                    rs1403051438 [Homo sapiens]
                      Variant type:
                      SNV
                      Alleles:
                      A>C,T [Show Flanks]
                      Chromosome:
                      2:207624306 (GRCh38)
                      2:208489030 (GRCh37)
                      Canonical SPDI:
                      NC_000002.12:207624305:A:C,NC_000002.12:207624305:A:T
                      Gene:
                      METTL21A (Varview)
                      Functional Consequence:
                      missense_variant,coding_sequence_variant
                      Validated:
                      by frequency,by alfa,by cluster
                      MAF:
                      T=0./0 (ALFA)
                      HGVS:
                      NC_000002.12:g.207624306A>C, NC_000002.12:g.207624306A>T, NC_000002.11:g.208489030A>C, NC_000002.11:g.208489030A>T, NM_145280.7:c.70T>G, NM_145280.7:c.70T>A, NM_145280.6:c.70T>G, NM_145280.6:c.70T>A, NM_145280.5:c.70T>G, NM_145280.5:c.70T>A, NM_145280.4:c.70T>G, NM_145280.4:c.70T>A, XM_005246337.5:c.70T>G, XM_005246337.5:c.70T>A, XM_005246337.4:c.70T>G, XM_005246337.4:c.70T>A, XM_005246337.3:c.70T>G, XM_005246337.3:c.70T>A, XM_005246337.2:c.70T>G, XM_005246337.2:c.70T>A, XM_005246337.1:c.70T>G, XM_005246337.1:c.70T>A, NM_001127395.5:c.70T>G, NM_001127395.5:c.70T>A, NM_001127395.4:c.70T>G, NM_001127395.4:c.70T>A, NM_001127395.3:c.70T>G, NM_001127395.3:c.70T>A, NM_001127395.2:c.70T>G, NM_001127395.2:c.70T>A, NM_001127395.1:c.70T>G, NM_001127395.1:c.70T>A, XM_006712327.4:c.70T>G, XM_006712327.4:c.70T>A, XM_006712327.3:c.70T>G, XM_006712327.3:c.70T>A, XM_006712327.2:c.70T>G, XM_006712327.2:c.70T>A, XM_006712327.1:c.70T>G, XM_006712327.1:c.70T>A, XM_005246336.4:c.70T>G, XM_005246336.4:c.70T>A, XM_005246336.3:c.70T>G, XM_005246336.3:c.70T>A, XM_005246336.2:c.70T>G, XM_005246336.2:c.70T>A, XM_005246336.1:c.70T>G, XM_005246336.1:c.70T>A, XM_011510728.4:c.145T>G, XM_011510728.4:c.145T>A, XM_011510728.3:c.145T>G, XM_011510728.3:c.145T>A, XM_011510728.2:c.145T>G, XM_011510728.2:c.145T>A, XM_011510728.1:c.145T>G, XM_011510728.1:c.145T>A, XM_011510724.3:c.145T>G, XM_011510724.3:c.145T>A, XM_011510724.2:c.145T>G, XM_011510724.2:c.145T>A, XM_011510724.1:c.145T>G, XM_011510724.1:c.145T>A, XM_011510725.3:c.145T>G, XM_011510725.3:c.145T>A, XM_011510725.2:c.145T>G, XM_011510725.2:c.145T>A, XM_011510725.1:c.145T>G, XM_011510725.1:c.145T>A, NM_001330133.3:c.70T>G, NM_001330133.3:c.70T>A, NM_001330133.2:c.70T>G, NM_001330133.2:c.70T>A, NM_001330133.1:c.70T>G, NM_001330133.1:c.70T>A, NM_001330132.3:c.70T>G, NM_001330132.3:c.70T>A, NM_001330132.2:c.70T>G, NM_001330132.2:c.70T>A, NM_001330132.1:c.70T>G, NM_001330132.1:c.70T>A, NM_001330136.3:c.70T>G, NM_001330136.3:c.70T>A, NM_001330136.2:c.70T>G, NM_001330136.2:c.70T>A, NM_001330136.1:c.70T>G, NM_001330136.1:c.70T>A, NM_001308021.3:c.70T>G, NM_001308021.3:c.70T>A, NM_001308021.2:c.70T>G, NM_001308021.2:c.70T>A, NM_001308021.1:c.70T>G, NM_001308021.1:c.70T>A, NM_001330134.2:c.70T>G, NM_001330134.2:c.70T>A, NM_001330134.1:c.70T>G, NM_001330134.1:c.70T>A, NM_001330137.2:c.70T>G, NM_001330137.2:c.70T>A, NM_001330137.1:c.70T>G, NM_001330137.1:c.70T>A, NM_001330130.2:c.70T>G, NM_001330130.2:c.70T>A, NM_001330130.1:c.70T>G, NM_001330130.1:c.70T>A, XM_024452721.2:c.70T>G, XM_024452721.2:c.70T>A, XM_024452721.1:c.70T>G, XM_024452721.1:c.70T>A, XM_024452722.2:c.70T>G, XM_024452722.2:c.70T>A, XM_024452722.1:c.70T>G, XM_024452722.1:c.70T>A, NM_001330131.2:c.70T>G, NM_001330131.2:c.70T>A, NM_001330131.1:c.70T>G, NM_001330131.1:c.70T>A, NM_001330135.2:c.70T>G, NM_001330135.2:c.70T>A, NM_001330135.1:c.70T>G, NM_001330135.1:c.70T>A, NM_001388439.2:c.70T>G, NM_001388439.2:c.70T>A, NM_001388439.1:c.70T>G, NM_001388439.1:c.70T>A, NM_001388425.1:c.70T>G, NM_001388425.1:c.70T>A, NM_001393569.1:c.70T>G, NM_001393569.1:c.70T>A, NM_001393571.1:c.70T>G, NM_001393571.1:c.70T>A, NM_001393568.1:c.70T>G, NM_001393568.1:c.70T>A, NM_001393574.1:c.70T>G, NM_001393574.1:c.70T>A, NM_001393570.1:c.70T>G, NM_001393570.1:c.70T>A, NM_001393572.1:c.70T>G, NM_001393572.1:c.70T>A, NM_001393575.1:c.70T>G, NM_001393575.1:c.70T>A, NM_001388427.1:c.70T>G, NM_001388427.1:c.70T>A, NM_001393573.1:c.70T>G, NM_001393573.1:c.70T>A, NM_001393565.1:c.70T>G, NM_001393565.1:c.70T>A, NM_001393566.1:c.70T>G, NM_001393566.1:c.70T>A, NM_001393564.1:c.70T>G, NM_001393564.1:c.70T>A, XM_047443497.1:c.70T>G, XM_047443497.1:c.70T>A, XM_047443496.1:c.145T>G, XM_047443496.1:c.145T>A, NM_001393563.1:c.70T>G, NM_001393563.1:c.70T>A, NM_001393567.1:c.70T>G, NM_001393567.1:c.70T>A, XM_047443499.1:c.70T>G, XM_047443499.1:c.70T>A, XM_047443498.1:c.145T>G, XM_047443498.1:c.145T>A, NP_660323.3:p.Phe24Val, NP_660323.3:p.Phe24Ile, XP_005246394.1:p.Phe24Val, XP_005246394.1:p.Phe24Ile, NP_001120867.1:p.Phe24Val, NP_001120867.1:p.Phe24Ile, XP_006712390.1:p.Phe24Val, XP_006712390.1:p.Phe24Ile, XP_005246393.1:p.Phe24Val, XP_005246393.1:p.Phe24Ile, XP_011509030.1:p.Phe49Val, XP_011509030.1:p.Phe49Ile, XP_011509026.1:p.Phe49Val, XP_011509026.1:p.Phe49Ile, XP_011509027.1:p.Phe49Val, XP_011509027.1:p.Phe49Ile, NP_001317062.1:p.Phe24Val, NP_001317062.1:p.Phe24Ile, NP_001317061.1:p.Phe24Val, NP_001317061.1:p.Phe24Ile, NP_001317065.1:p.Phe24Val, NP_001317065.1:p.Phe24Ile, NP_001294950.1:p.Phe24Val, NP_001294950.1:p.Phe24Ile, NP_001317063.1:p.Phe24Val, NP_001317063.1:p.Phe24Ile, NP_001317066.1:p.Phe24Val, NP_001317066.1:p.Phe24Ile, NP_001317059.1:p.Phe24Val, NP_001317059.1:p.Phe24Ile, XP_024308489.1:p.Phe24Val, XP_024308489.1:p.Phe24Ile, XP_024308490.1:p.Phe24Val, XP_024308490.1:p.Phe24Ile, NP_001317060.1:p.Phe24Val, NP_001317060.1:p.Phe24Ile, NP_001317064.1:p.Phe24Val, NP_001317064.1:p.Phe24Ile, NP_001375368.1:p.Phe24Val, NP_001375368.1:p.Phe24Ile, NP_001380498.1:p.Phe24Val, NP_001380498.1:p.Phe24Ile, NP_001380500.1:p.Phe24Val, NP_001380500.1:p.Phe24Ile, NP_001380497.1:p.Phe24Val, NP_001380497.1:p.Phe24Ile, NP_001380503.1:p.Phe24Val, NP_001380503.1:p.Phe24Ile, NP_001380499.1:p.Phe24Val, NP_001380499.1:p.Phe24Ile, NP_001380501.1:p.Phe24Val, NP_001380501.1:p.Phe24Ile, NP_001380504.1:p.Phe24Val, NP_001380504.1:p.Phe24Ile, NP_001375356.1:p.Phe24Val, NP_001375356.1:p.Phe24Ile, NP_001380502.1:p.Phe24Val, NP_001380502.1:p.Phe24Ile, NP_001380494.1:p.Phe24Val, NP_001380494.1:p.Phe24Ile, NP_001380495.1:p.Phe24Val, NP_001380495.1:p.Phe24Ile, NP_001380493.1:p.Phe24Val, NP_001380493.1:p.Phe24Ile, XP_047299453.1:p.Phe24Val, XP_047299453.1:p.Phe24Ile, XP_047299452.1:p.Phe49Val, XP_047299452.1:p.Phe49Ile, NP_001380492.1:p.Phe24Val, NP_001380492.1:p.Phe24Ile, NP_001380496.1:p.Phe24Val, NP_001380496.1:p.Phe24Ile, XP_047299455.1:p.Phe24Val, XP_047299455.1:p.Phe24Ile, XP_047299454.1:p.Phe49Val, XP_047299454.1:p.Phe49Ile

                      11.

                      rs1379981285 [Homo sapiens]
                        Variant type:
                        SNV
                        Alleles:
                        G>A [Show Flanks]
                        Chromosome:
                        2:207624250 (GRCh38)
                        2:208488974 (GRCh37)
                        Canonical SPDI:
                        NC_000002.12:207624249:G:A
                        Gene:
                        METTL21A (Varview)
                        Functional Consequence:
                        coding_sequence_variant,synonymous_variant
                        Validated:
                        by frequency,by cluster
                        MAF:
                        A=0.000007/1 (GnomAD)
                        HGVS:
                        NC_000002.12:g.207624250G>A, NC_000002.11:g.208488974G>A, NM_145280.7:c.126C>T, NM_145280.6:c.126C>T, NM_145280.5:c.126C>T, NM_145280.4:c.126C>T, XM_005246337.5:c.126C>T, XM_005246337.4:c.126C>T, XM_005246337.3:c.126C>T, XM_005246337.2:c.126C>T, XM_005246337.1:c.126C>T, NM_001127395.5:c.126C>T, NM_001127395.4:c.126C>T, NM_001127395.3:c.126C>T, NM_001127395.2:c.126C>T, NM_001127395.1:c.126C>T, XM_006712327.4:c.126C>T, XM_006712327.3:c.126C>T, XM_006712327.2:c.126C>T, XM_006712327.1:c.126C>T, XM_005246336.4:c.126C>T, XM_005246336.3:c.126C>T, XM_005246336.2:c.126C>T, XM_005246336.1:c.126C>T, XM_011510728.4:c.201C>T, XM_011510728.3:c.201C>T, XM_011510728.2:c.201C>T, XM_011510728.1:c.201C>T, XM_011510724.3:c.201C>T, XM_011510724.2:c.201C>T, XM_011510724.1:c.201C>T, XM_011510725.3:c.201C>T, XM_011510725.2:c.201C>T, XM_011510725.1:c.201C>T, NM_001330133.3:c.126C>T, NM_001330133.2:c.126C>T, NM_001330133.1:c.126C>T, NM_001330132.3:c.126C>T, NM_001330132.2:c.126C>T, NM_001330132.1:c.126C>T, NM_001330136.3:c.126C>T, NM_001330136.2:c.126C>T, NM_001330136.1:c.126C>T, NM_001308021.3:c.126C>T, NM_001308021.2:c.126C>T, NM_001308021.1:c.126C>T, NM_001330134.2:c.126C>T, NM_001330134.1:c.126C>T, NM_001330137.2:c.126C>T, NM_001330137.1:c.126C>T, NM_001330130.2:c.126C>T, NM_001330130.1:c.126C>T, XM_024452721.2:c.126C>T, XM_024452721.1:c.126C>T, XM_024452722.2:c.126C>T, XM_024452722.1:c.126C>T, NM_001330131.2:c.126C>T, NM_001330131.1:c.126C>T, NM_001330135.2:c.126C>T, NM_001330135.1:c.126C>T, NM_001388439.2:c.126C>T, NM_001388439.1:c.126C>T, NM_001388425.1:c.126C>T, NM_001393569.1:c.126C>T, NM_001393571.1:c.126C>T, NM_001393568.1:c.126C>T, NM_001393574.1:c.126C>T, NM_001393570.1:c.126C>T, NM_001393572.1:c.126C>T, NM_001393575.1:c.126C>T, NM_001388427.1:c.126C>T, NM_001393573.1:c.126C>T, NM_001393565.1:c.126C>T, NM_001393566.1:c.126C>T, NM_001393564.1:c.126C>T, XM_047443497.1:c.126C>T, XM_047443496.1:c.201C>T, NM_001393563.1:c.126C>T, NM_001393567.1:c.126C>T, XM_047443499.1:c.126C>T, XM_047443498.1:c.201C>T

                        12.

                        rs1368915097 [Homo sapiens]
                          Variant type:
                          SNV
                          Alleles:
                          T>A [Show Flanks]
                          Chromosome:
                          2:207582147 (GRCh38)
                          2:208446871 (GRCh37)
                          Canonical SPDI:
                          NC_000002.12:207582146:T:A
                          Gene:
                          CREB1 (Varview), METTL21A (Varview)
                          Functional Consequence:
                          stop_lost,genic_downstream_transcript_variant,terminator_codon_variant,3_prime_UTR_variant,intron_variant
                          Validated:
                          by frequency
                          MAF:
                          A=0.000007/1 (GnomAD_exomes)
                          HGVS:
                          NC_000002.12:g.207582147T>A, NC_000002.11:g.208446871T>A, NG_023299.1:g.57256T>A, XM_011510648.4:c.*2581T>A, XM_017003399.3:c.*2581T>A, NM_001330133.3:c.273A>T, NM_001330133.2:c.273A>T, NM_001330133.1:c.273A>T, NM_001330131.2:c.273A>T, NM_001330131.1:c.273A>T, NM_001330135.2:c.273A>T, NM_001330135.1:c.273A>T, XM_047443438.1:c.*2581T>A, NM_001393569.1:c.327A>T, NM_001393571.1:c.309A>T, NM_001393568.1:c.363A>T, NM_001393574.1:c.273A>T, NM_001393570.1:c.327A>T, NM_001393572.1:c.309A>T, NM_001393575.1:c.273A>T, NM_001393573.1:c.273A>T, XM_047443496.1:c.402A>T, NP_001317062.1:p.Ter91Tyr, NP_001317060.1:p.Ter91Tyr, NP_001317064.1:p.Ter91Tyr, NP_001380498.1:p.Ter109Tyr, NP_001380500.1:p.Ter103Tyr, NP_001380497.1:p.Ter121Tyr, NP_001380503.1:p.Ter91Tyr, NP_001380499.1:p.Ter109Tyr, NP_001380501.1:p.Ter103Tyr, NP_001380504.1:p.Ter91Tyr, NP_001380502.1:p.Ter91Tyr, XP_047299452.1:p.Ter134Tyr

                          13.

                          rs1357943000 [Homo sapiens]
                            Variant type:
                            SNV
                            Alleles:
                            G>A [Show Flanks]
                            Chromosome:
                            2:207624349 (GRCh38)
                            2:208489073 (GRCh37)
                            Canonical SPDI:
                            NC_000002.12:207624348:G:A
                            Gene:
                            METTL21A (Varview)
                            Functional Consequence:
                            synonymous_variant,coding_sequence_variant
                            Validated:
                            by frequency
                            MAF:
                            A=0.000008/2 (GnomAD_exomes)
                            HGVS:
                            NC_000002.12:g.207624349G>A, NC_000002.11:g.208489073G>A, NM_145280.7:c.27C>T, NM_145280.6:c.27C>T, NM_145280.5:c.27C>T, NM_145280.4:c.27C>T, XM_005246337.5:c.27C>T, XM_005246337.4:c.27C>T, XM_005246337.3:c.27C>T, XM_005246337.2:c.27C>T, XM_005246337.1:c.27C>T, NM_001127395.5:c.27C>T, NM_001127395.4:c.27C>T, NM_001127395.3:c.27C>T, NM_001127395.2:c.27C>T, NM_001127395.1:c.27C>T, XM_006712327.4:c.27C>T, XM_006712327.3:c.27C>T, XM_006712327.2:c.27C>T, XM_006712327.1:c.27C>T, XM_005246336.4:c.27C>T, XM_005246336.3:c.27C>T, XM_005246336.2:c.27C>T, XM_005246336.1:c.27C>T, XM_011510728.4:c.102C>T, XM_011510728.3:c.102C>T, XM_011510728.2:c.102C>T, XM_011510728.1:c.102C>T, XM_011510724.3:c.102C>T, XM_011510724.2:c.102C>T, XM_011510724.1:c.102C>T, XM_011510725.3:c.102C>T, XM_011510725.2:c.102C>T, XM_011510725.1:c.102C>T, NM_001330133.3:c.27C>T, NM_001330133.2:c.27C>T, NM_001330133.1:c.27C>T, NM_001330132.3:c.27C>T, NM_001330132.2:c.27C>T, NM_001330132.1:c.27C>T, NM_001330136.3:c.27C>T, NM_001330136.2:c.27C>T, NM_001330136.1:c.27C>T, NM_001308021.3:c.27C>T, NM_001308021.2:c.27C>T, NM_001308021.1:c.27C>T, NM_001330134.2:c.27C>T, NM_001330134.1:c.27C>T, NM_001330137.2:c.27C>T, NM_001330137.1:c.27C>T, NM_001330130.2:c.27C>T, NM_001330130.1:c.27C>T, XM_024452721.2:c.27C>T, XM_024452721.1:c.27C>T, XM_024452722.2:c.27C>T, XM_024452722.1:c.27C>T, NM_001330131.2:c.27C>T, NM_001330131.1:c.27C>T, NM_001330135.2:c.27C>T, NM_001330135.1:c.27C>T, NM_001388439.2:c.27C>T, NM_001388439.1:c.27C>T, NM_001388425.1:c.27C>T, NM_001393569.1:c.27C>T, NM_001393571.1:c.27C>T, NM_001393568.1:c.27C>T, NM_001393574.1:c.27C>T, NM_001393570.1:c.27C>T, NM_001393572.1:c.27C>T, NM_001393575.1:c.27C>T, NM_001388427.1:c.27C>T, NM_001393573.1:c.27C>T, NM_001393565.1:c.27C>T, NM_001393566.1:c.27C>T, NM_001393564.1:c.27C>T, XM_047443497.1:c.27C>T, XM_047443496.1:c.102C>T, NM_001393563.1:c.27C>T, NM_001393567.1:c.27C>T, XM_047443499.1:c.27C>T, XM_047443498.1:c.102C>T

                            14.

                            rs1348983203 [Homo sapiens]
                              Variant type:
                              SNV
                              Alleles:
                              C>G,T [Show Flanks]
                              Chromosome:
                              2:207624355 (GRCh38)
                              2:208489079 (GRCh37)
                              Canonical SPDI:
                              NC_000002.12:207624354:C:G,NC_000002.12:207624354:C:T
                              Gene:
                              METTL21A (Varview)
                              Functional Consequence:
                              coding_sequence_variant,synonymous_variant,missense_variant
                              Validated:
                              by frequency,by alfa
                              MAF:
                              T=0./0 (ALFA)
                              G=0.000004/1 (GnomAD_exomes)
                              HGVS:
                              NC_000002.12:g.207624355C>G, NC_000002.12:g.207624355C>T, NC_000002.11:g.208489079C>G, NC_000002.11:g.208489079C>T, NM_145280.7:c.21G>C, NM_145280.7:c.21G>A, NM_145280.6:c.21G>C, NM_145280.6:c.21G>A, NM_145280.5:c.21G>C, NM_145280.5:c.21G>A, NM_145280.4:c.21G>C, NM_145280.4:c.21G>A, XM_005246337.5:c.21G>C, XM_005246337.5:c.21G>A, XM_005246337.4:c.21G>C, XM_005246337.4:c.21G>A, XM_005246337.3:c.21G>C, XM_005246337.3:c.21G>A, XM_005246337.2:c.21G>C, XM_005246337.2:c.21G>A, XM_005246337.1:c.21G>C, XM_005246337.1:c.21G>A, NM_001127395.5:c.21G>C, NM_001127395.5:c.21G>A, NM_001127395.4:c.21G>C, NM_001127395.4:c.21G>A, NM_001127395.3:c.21G>C, NM_001127395.3:c.21G>A, NM_001127395.2:c.21G>C, NM_001127395.2:c.21G>A, NM_001127395.1:c.21G>C, NM_001127395.1:c.21G>A, XM_006712327.4:c.21G>C, XM_006712327.4:c.21G>A, XM_006712327.3:c.21G>C, XM_006712327.3:c.21G>A, XM_006712327.2:c.21G>C, XM_006712327.2:c.21G>A, XM_006712327.1:c.21G>C, XM_006712327.1:c.21G>A, XM_005246336.4:c.21G>C, XM_005246336.4:c.21G>A, XM_005246336.3:c.21G>C, XM_005246336.3:c.21G>A, XM_005246336.2:c.21G>C, XM_005246336.2:c.21G>A, XM_005246336.1:c.21G>C, XM_005246336.1:c.21G>A, XM_011510728.4:c.96G>C, XM_011510728.4:c.96G>A, XM_011510728.3:c.96G>C, XM_011510728.3:c.96G>A, XM_011510728.2:c.96G>C, XM_011510728.2:c.96G>A, XM_011510728.1:c.96G>C, XM_011510728.1:c.96G>A, XM_011510724.3:c.96G>C, XM_011510724.3:c.96G>A, XM_011510724.2:c.96G>C, XM_011510724.2:c.96G>A, XM_011510724.1:c.96G>C, XM_011510724.1:c.96G>A, XM_011510725.3:c.96G>C, XM_011510725.3:c.96G>A, XM_011510725.2:c.96G>C, XM_011510725.2:c.96G>A, XM_011510725.1:c.96G>C, XM_011510725.1:c.96G>A, NM_001330133.3:c.21G>C, NM_001330133.3:c.21G>A, NM_001330133.2:c.21G>C, NM_001330133.2:c.21G>A, NM_001330133.1:c.21G>C, NM_001330133.1:c.21G>A, NM_001330132.3:c.21G>C, NM_001330132.3:c.21G>A, NM_001330132.2:c.21G>C, NM_001330132.2:c.21G>A, NM_001330132.1:c.21G>C, NM_001330132.1:c.21G>A, NM_001330136.3:c.21G>C, NM_001330136.3:c.21G>A, NM_001330136.2:c.21G>C, NM_001330136.2:c.21G>A, NM_001330136.1:c.21G>C, NM_001330136.1:c.21G>A, NM_001308021.3:c.21G>C, NM_001308021.3:c.21G>A, NM_001308021.2:c.21G>C, NM_001308021.2:c.21G>A, NM_001308021.1:c.21G>C, NM_001308021.1:c.21G>A, NM_001330134.2:c.21G>C, NM_001330134.2:c.21G>A, NM_001330134.1:c.21G>C, NM_001330134.1:c.21G>A, NM_001330137.2:c.21G>C, NM_001330137.2:c.21G>A, NM_001330137.1:c.21G>C, NM_001330137.1:c.21G>A, NM_001330130.2:c.21G>C, NM_001330130.2:c.21G>A, NM_001330130.1:c.21G>C, NM_001330130.1:c.21G>A, XM_024452721.2:c.21G>C, XM_024452721.2:c.21G>A, XM_024452721.1:c.21G>C, XM_024452721.1:c.21G>A, XM_024452722.2:c.21G>C, XM_024452722.2:c.21G>A, XM_024452722.1:c.21G>C, XM_024452722.1:c.21G>A, NM_001330131.2:c.21G>C, NM_001330131.2:c.21G>A, NM_001330131.1:c.21G>C, NM_001330131.1:c.21G>A, NM_001330135.2:c.21G>C, NM_001330135.2:c.21G>A, NM_001330135.1:c.21G>C, NM_001330135.1:c.21G>A, NM_001388439.2:c.21G>C, NM_001388439.2:c.21G>A, NM_001388439.1:c.21G>C, NM_001388439.1:c.21G>A, NM_001388425.1:c.21G>C, NM_001388425.1:c.21G>A, NM_001393569.1:c.21G>C, NM_001393569.1:c.21G>A, NM_001393571.1:c.21G>C, NM_001393571.1:c.21G>A, NM_001393568.1:c.21G>C, NM_001393568.1:c.21G>A, NM_001393574.1:c.21G>C, NM_001393574.1:c.21G>A, NM_001393570.1:c.21G>C, NM_001393570.1:c.21G>A, NM_001393572.1:c.21G>C, NM_001393572.1:c.21G>A, NM_001393575.1:c.21G>C, NM_001393575.1:c.21G>A, NM_001388427.1:c.21G>C, NM_001388427.1:c.21G>A, NM_001393573.1:c.21G>C, NM_001393573.1:c.21G>A, NM_001393565.1:c.21G>C, NM_001393565.1:c.21G>A, NM_001393566.1:c.21G>C, NM_001393566.1:c.21G>A, NM_001393564.1:c.21G>C, NM_001393564.1:c.21G>A, XM_047443497.1:c.21G>C, XM_047443497.1:c.21G>A, XM_047443496.1:c.96G>C, XM_047443496.1:c.96G>A, NM_001393563.1:c.21G>C, NM_001393563.1:c.21G>A, NM_001393567.1:c.21G>C, NM_001393567.1:c.21G>A, XM_047443499.1:c.21G>C, XM_047443499.1:c.21G>A, XM_047443498.1:c.96G>C, XM_047443498.1:c.96G>A, NP_660323.3:p.Glu7Asp, XP_005246394.1:p.Glu7Asp, NP_001120867.1:p.Glu7Asp, XP_006712390.1:p.Glu7Asp, XP_005246393.1:p.Glu7Asp, XP_011509030.1:p.Glu32Asp, XP_011509026.1:p.Glu32Asp, XP_011509027.1:p.Glu32Asp, NP_001317062.1:p.Glu7Asp, NP_001317061.1:p.Glu7Asp, NP_001317065.1:p.Glu7Asp, NP_001294950.1:p.Glu7Asp, NP_001317063.1:p.Glu7Asp, NP_001317066.1:p.Glu7Asp, NP_001317059.1:p.Glu7Asp, XP_024308489.1:p.Glu7Asp, XP_024308490.1:p.Glu7Asp, NP_001317060.1:p.Glu7Asp, NP_001317064.1:p.Glu7Asp, NP_001375368.1:p.Glu7Asp, NP_001380498.1:p.Glu7Asp, NP_001380500.1:p.Glu7Asp, NP_001380497.1:p.Glu7Asp, NP_001380503.1:p.Glu7Asp, NP_001380499.1:p.Glu7Asp, NP_001380501.1:p.Glu7Asp, NP_001380504.1:p.Glu7Asp, NP_001375356.1:p.Glu7Asp, NP_001380502.1:p.Glu7Asp, NP_001380494.1:p.Glu7Asp, NP_001380495.1:p.Glu7Asp, NP_001380493.1:p.Glu7Asp, XP_047299453.1:p.Glu7Asp, XP_047299452.1:p.Glu32Asp, NP_001380492.1:p.Glu7Asp, NP_001380496.1:p.Glu7Asp, XP_047299455.1:p.Glu7Asp, XP_047299454.1:p.Glu32Asp

                              15.

                              rs1347260317 [Homo sapiens]
                                Variant type:
                                SNV
                                Alleles:
                                A>G,T [Show Flanks]
                                Chromosome:
                                2:207621820 (GRCh38)
                                2:208486544 (GRCh37)
                                Canonical SPDI:
                                NC_000002.12:207621819:A:G,NC_000002.12:207621819:A:T
                                Gene:
                                METTL21A (Varview)
                                Functional Consequence:
                                coding_sequence_variant,missense_variant
                                Validated:
                                by frequency,by alfa,by cluster
                                MAF:
                                G=0./0 (ALFA)
                                T=0.000004/1 (GnomAD_exomes)
                                G=0.000004/1 (TOPMED)
                                G=0.000007/1 (GnomAD)
                                HGVS:
                                NC_000002.12:g.207621820A>G, NC_000002.12:g.207621820A>T, NC_000002.11:g.208486544A>G, NC_000002.11:g.208486544A>T, NM_145280.7:c.245T>C, NM_145280.7:c.245T>A, NM_145280.6:c.245T>C, NM_145280.6:c.245T>A, NM_145280.5:c.245T>C, NM_145280.5:c.245T>A, NM_145280.4:c.245T>C, NM_145280.4:c.245T>A, XM_005246337.5:c.245T>C, XM_005246337.5:c.245T>A, XM_005246337.4:c.245T>C, XM_005246337.4:c.245T>A, XM_005246337.3:c.245T>C, XM_005246337.3:c.245T>A, XM_005246337.2:c.245T>C, XM_005246337.2:c.245T>A, XM_005246337.1:c.245T>C, XM_005246337.1:c.245T>A, NM_001127395.5:c.245T>C, NM_001127395.5:c.245T>A, NM_001127395.4:c.245T>C, NM_001127395.4:c.245T>A, NM_001127395.3:c.245T>C, NM_001127395.3:c.245T>A, NM_001127395.2:c.245T>C, NM_001127395.2:c.245T>A, NM_001127395.1:c.245T>C, NM_001127395.1:c.245T>A, XM_006712327.4:c.245T>C, XM_006712327.4:c.245T>A, XM_006712327.3:c.245T>C, XM_006712327.3:c.245T>A, XM_006712327.2:c.245T>C, XM_006712327.2:c.245T>A, XM_006712327.1:c.245T>C, XM_006712327.1:c.245T>A, XM_005246336.4:c.245T>C, XM_005246336.4:c.245T>A, XM_005246336.3:c.245T>C, XM_005246336.3:c.245T>A, XM_005246336.2:c.245T>C, XM_005246336.2:c.245T>A, XM_005246336.1:c.245T>C, XM_005246336.1:c.245T>A, XM_011510728.4:c.320T>C, XM_011510728.4:c.320T>A, XM_011510728.3:c.320T>C, XM_011510728.3:c.320T>A, XM_011510728.2:c.320T>C, XM_011510728.2:c.320T>A, XM_011510728.1:c.320T>C, XM_011510728.1:c.320T>A, XM_011510724.3:c.320T>C, XM_011510724.3:c.320T>A, XM_011510724.2:c.320T>C, XM_011510724.2:c.320T>A, XM_011510724.1:c.320T>C, XM_011510724.1:c.320T>A, XM_011510725.3:c.320T>C, XM_011510725.3:c.320T>A, XM_011510725.2:c.320T>C, XM_011510725.2:c.320T>A, XM_011510725.1:c.320T>C, XM_011510725.1:c.320T>A, NM_001330133.3:c.245T>C, NM_001330133.3:c.245T>A, NM_001330133.2:c.245T>C, NM_001330133.2:c.245T>A, NM_001330133.1:c.245T>C, NM_001330133.1:c.245T>A, NM_001330132.3:c.245T>C, NM_001330132.3:c.245T>A, NM_001330132.2:c.245T>C, NM_001330132.2:c.245T>A, NM_001330132.1:c.245T>C, NM_001330132.1:c.245T>A, NM_001330136.3:c.245T>C, NM_001330136.3:c.245T>A, NM_001330136.2:c.245T>C, NM_001330136.2:c.245T>A, NM_001330136.1:c.245T>C, NM_001330136.1:c.245T>A, NM_001308021.3:c.245T>C, NM_001308021.3:c.245T>A, NM_001308021.2:c.245T>C, NM_001308021.2:c.245T>A, NM_001308021.1:c.245T>C, NM_001308021.1:c.245T>A, NM_001330134.2:c.245T>C, NM_001330134.2:c.245T>A, NM_001330134.1:c.245T>C, NM_001330134.1:c.245T>A, NM_001330137.2:c.245T>C, NM_001330137.2:c.245T>A, NM_001330137.1:c.245T>C, NM_001330137.1:c.245T>A, NM_001330130.2:c.245T>C, NM_001330130.2:c.245T>A, NM_001330130.1:c.245T>C, NM_001330130.1:c.245T>A, XM_024452721.2:c.245T>C, XM_024452721.2:c.245T>A, XM_024452721.1:c.245T>C, XM_024452721.1:c.245T>A, XM_024452722.2:c.245T>C, XM_024452722.2:c.245T>A, XM_024452722.1:c.245T>C, XM_024452722.1:c.245T>A, NM_001330131.2:c.245T>C, NM_001330131.2:c.245T>A, NM_001330131.1:c.245T>C, NM_001330131.1:c.245T>A, NM_001330135.2:c.245T>C, NM_001330135.2:c.245T>A, NM_001330135.1:c.245T>C, NM_001330135.1:c.245T>A, NM_001388439.2:c.245T>C, NM_001388439.2:c.245T>A, NM_001388439.1:c.245T>C, NM_001388439.1:c.245T>A, NM_001388425.1:c.245T>C, NM_001388425.1:c.245T>A, NM_001393569.1:c.245T>C, NM_001393569.1:c.245T>A, NM_001393571.1:c.245T>C, NM_001393571.1:c.245T>A, NM_001393568.1:c.245T>C, NM_001393568.1:c.245T>A, NM_001393574.1:c.245T>C, NM_001393574.1:c.245T>A, NM_001393570.1:c.245T>C, NM_001393570.1:c.245T>A, NM_001393572.1:c.245T>C, NM_001393572.1:c.245T>A, NM_001393575.1:c.245T>C, NM_001393575.1:c.245T>A, NM_001388427.1:c.245T>C, NM_001388427.1:c.245T>A, NM_001393573.1:c.245T>C, NM_001393573.1:c.245T>A, NM_001393565.1:c.245T>C, NM_001393565.1:c.245T>A, NM_001393566.1:c.245T>C, NM_001393566.1:c.245T>A, NM_001393564.1:c.245T>C, NM_001393564.1:c.245T>A, XM_047443497.1:c.245T>C, XM_047443497.1:c.245T>A, XM_047443496.1:c.320T>C, XM_047443496.1:c.320T>A, NM_001393563.1:c.245T>C, NM_001393563.1:c.245T>A, NM_001393567.1:c.245T>C, NM_001393567.1:c.245T>A, XM_047443499.1:c.245T>C, XM_047443499.1:c.245T>A, XM_047443498.1:c.320T>C, XM_047443498.1:c.320T>A, NP_660323.3:p.Val82Ala, NP_660323.3:p.Val82Glu, XP_005246394.1:p.Val82Ala, XP_005246394.1:p.Val82Glu, NP_001120867.1:p.Val82Ala, NP_001120867.1:p.Val82Glu, XP_006712390.1:p.Val82Ala, XP_006712390.1:p.Val82Glu, XP_005246393.1:p.Val82Ala, XP_005246393.1:p.Val82Glu, XP_011509030.1:p.Val107Ala, XP_011509030.1:p.Val107Glu, XP_011509026.1:p.Val107Ala, XP_011509026.1:p.Val107Glu, XP_011509027.1:p.Val107Ala, XP_011509027.1:p.Val107Glu, NP_001317062.1:p.Val82Ala, NP_001317062.1:p.Val82Glu, NP_001317061.1:p.Val82Ala, NP_001317061.1:p.Val82Glu, NP_001317065.1:p.Val82Ala, NP_001317065.1:p.Val82Glu, NP_001294950.1:p.Val82Ala, NP_001294950.1:p.Val82Glu, NP_001317063.1:p.Val82Ala, NP_001317063.1:p.Val82Glu, NP_001317066.1:p.Val82Ala, NP_001317066.1:p.Val82Glu, NP_001317059.1:p.Val82Ala, NP_001317059.1:p.Val82Glu, XP_024308489.1:p.Val82Ala, XP_024308489.1:p.Val82Glu, XP_024308490.1:p.Val82Ala, XP_024308490.1:p.Val82Glu, NP_001317060.1:p.Val82Ala, NP_001317060.1:p.Val82Glu, NP_001317064.1:p.Val82Ala, NP_001317064.1:p.Val82Glu, NP_001375368.1:p.Val82Ala, NP_001375368.1:p.Val82Glu, NP_001380498.1:p.Val82Ala, NP_001380498.1:p.Val82Glu, NP_001380500.1:p.Val82Ala, NP_001380500.1:p.Val82Glu, NP_001380497.1:p.Val82Ala, NP_001380497.1:p.Val82Glu, NP_001380503.1:p.Val82Ala, NP_001380503.1:p.Val82Glu, NP_001380499.1:p.Val82Ala, NP_001380499.1:p.Val82Glu, NP_001380501.1:p.Val82Ala, NP_001380501.1:p.Val82Glu, NP_001380504.1:p.Val82Ala, NP_001380504.1:p.Val82Glu, NP_001375356.1:p.Val82Ala, NP_001375356.1:p.Val82Glu, NP_001380502.1:p.Val82Ala, NP_001380502.1:p.Val82Glu, NP_001380494.1:p.Val82Ala, NP_001380494.1:p.Val82Glu, NP_001380495.1:p.Val82Ala, NP_001380495.1:p.Val82Glu, NP_001380493.1:p.Val82Ala, NP_001380493.1:p.Val82Glu, XP_047299453.1:p.Val82Ala, XP_047299453.1:p.Val82Glu, XP_047299452.1:p.Val107Ala, XP_047299452.1:p.Val107Glu, NP_001380492.1:p.Val82Ala, NP_001380492.1:p.Val82Glu, NP_001380496.1:p.Val82Ala, NP_001380496.1:p.Val82Glu, XP_047299455.1:p.Val82Ala, XP_047299455.1:p.Val82Glu, XP_047299454.1:p.Val107Ala, XP_047299454.1:p.Val107Glu

                                16.

                                rs1338501138 [Homo sapiens]
                                  Variant type:
                                  SNV
                                  Alleles:
                                  C>T [Show Flanks]
                                  Chromosome:
                                  2:207621886 (GRCh38)
                                  2:208486610 (GRCh37)
                                  Canonical SPDI:
                                  NC_000002.12:207621885:C:T
                                  Gene:
                                  METTL21A (Varview)
                                  Functional Consequence:
                                  missense_variant,coding_sequence_variant
                                  Validated:
                                  by frequency,by alfa,by cluster
                                  MAF:
                                  T=0./0 (ALFA)
                                  T=0.000004/1 (TOPMED)
                                  T=0.000007/1 (GnomAD)
                                  HGVS:
                                  NC_000002.12:g.207621886C>T, NC_000002.11:g.208486610C>T, NM_145280.7:c.179G>A, NM_145280.6:c.179G>A, NM_145280.5:c.179G>A, NM_145280.4:c.179G>A, XM_005246337.5:c.179G>A, XM_005246337.4:c.179G>A, XM_005246337.3:c.179G>A, XM_005246337.2:c.179G>A, XM_005246337.1:c.179G>A, NM_001127395.5:c.179G>A, NM_001127395.4:c.179G>A, NM_001127395.3:c.179G>A, NM_001127395.2:c.179G>A, NM_001127395.1:c.179G>A, XM_006712327.4:c.179G>A, XM_006712327.3:c.179G>A, XM_006712327.2:c.179G>A, XM_006712327.1:c.179G>A, XM_005246336.4:c.179G>A, XM_005246336.3:c.179G>A, XM_005246336.2:c.179G>A, XM_005246336.1:c.179G>A, XM_011510728.4:c.254G>A, XM_011510728.3:c.254G>A, XM_011510728.2:c.254G>A, XM_011510728.1:c.254G>A, XM_011510724.3:c.254G>A, XM_011510724.2:c.254G>A, XM_011510724.1:c.254G>A, XM_011510725.3:c.254G>A, XM_011510725.2:c.254G>A, XM_011510725.1:c.254G>A, NM_001330133.3:c.179G>A, NM_001330133.2:c.179G>A, NM_001330133.1:c.179G>A, NM_001330132.3:c.179G>A, NM_001330132.2:c.179G>A, NM_001330132.1:c.179G>A, NM_001330136.3:c.179G>A, NM_001330136.2:c.179G>A, NM_001330136.1:c.179G>A, NM_001308021.3:c.179G>A, NM_001308021.2:c.179G>A, NM_001308021.1:c.179G>A, NM_001330134.2:c.179G>A, NM_001330134.1:c.179G>A, NM_001330137.2:c.179G>A, NM_001330137.1:c.179G>A, NM_001330130.2:c.179G>A, NM_001330130.1:c.179G>A, XM_024452721.2:c.179G>A, XM_024452721.1:c.179G>A, XM_024452722.2:c.179G>A, XM_024452722.1:c.179G>A, NM_001330131.2:c.179G>A, NM_001330131.1:c.179G>A, NM_001330135.2:c.179G>A, NM_001330135.1:c.179G>A, NM_001388439.2:c.179G>A, NM_001388439.1:c.179G>A, NM_001388425.1:c.179G>A, NM_001393569.1:c.179G>A, NM_001393571.1:c.179G>A, NM_001393568.1:c.179G>A, NM_001393574.1:c.179G>A, NM_001393570.1:c.179G>A, NM_001393572.1:c.179G>A, NM_001393575.1:c.179G>A, NM_001388427.1:c.179G>A, NM_001393573.1:c.179G>A, NM_001393565.1:c.179G>A, NM_001393566.1:c.179G>A, NM_001393564.1:c.179G>A, XM_047443497.1:c.179G>A, XM_047443496.1:c.254G>A, NM_001393563.1:c.179G>A, NM_001393567.1:c.179G>A, XM_047443499.1:c.179G>A, XM_047443498.1:c.254G>A, NP_660323.3:p.Gly60Glu, XP_005246394.1:p.Gly60Glu, NP_001120867.1:p.Gly60Glu, XP_006712390.1:p.Gly60Glu, XP_005246393.1:p.Gly60Glu, XP_011509030.1:p.Gly85Glu, XP_011509026.1:p.Gly85Glu, XP_011509027.1:p.Gly85Glu, NP_001317062.1:p.Gly60Glu, NP_001317061.1:p.Gly60Glu, NP_001317065.1:p.Gly60Glu, NP_001294950.1:p.Gly60Glu, NP_001317063.1:p.Gly60Glu, NP_001317066.1:p.Gly60Glu, NP_001317059.1:p.Gly60Glu, XP_024308489.1:p.Gly60Glu, XP_024308490.1:p.Gly60Glu, NP_001317060.1:p.Gly60Glu, NP_001317064.1:p.Gly60Glu, NP_001375368.1:p.Gly60Glu, NP_001380498.1:p.Gly60Glu, NP_001380500.1:p.Gly60Glu, NP_001380497.1:p.Gly60Glu, NP_001380503.1:p.Gly60Glu, NP_001380499.1:p.Gly60Glu, NP_001380501.1:p.Gly60Glu, NP_001380504.1:p.Gly60Glu, NP_001375356.1:p.Gly60Glu, NP_001380502.1:p.Gly60Glu, NP_001380494.1:p.Gly60Glu, NP_001380495.1:p.Gly60Glu, NP_001380493.1:p.Gly60Glu, XP_047299453.1:p.Gly60Glu, XP_047299452.1:p.Gly85Glu, NP_001380492.1:p.Gly60Glu, NP_001380496.1:p.Gly60Glu, XP_047299455.1:p.Gly60Glu, XP_047299454.1:p.Gly85Glu

                                  17.

                                  rs1335414467 [Homo sapiens]
                                    Variant type:
                                    SNV
                                    Alleles:
                                    C>A,T [Show Flanks]
                                    Chromosome:
                                    2:207621836 (GRCh38)
                                    2:208486560 (GRCh37)
                                    Canonical SPDI:
                                    NC_000002.12:207621835:C:A,NC_000002.12:207621835:C:T
                                    Gene:
                                    METTL21A (Varview)
                                    Functional Consequence:
                                    missense_variant,coding_sequence_variant
                                    Validated:
                                    by frequency,by alfa,by cluster
                                    MAF:
                                    T=0./0 (ALFA)
                                    A=0.000004/1 (GnomAD_exomes)
                                    T=0.000004/1 (TOPMED)
                                    HGVS:
                                    NC_000002.12:g.207621836C>A, NC_000002.12:g.207621836C>T, NC_000002.11:g.208486560C>A, NC_000002.11:g.208486560C>T, NM_145280.7:c.229G>T, NM_145280.7:c.229G>A, NM_145280.6:c.229G>T, NM_145280.6:c.229G>A, NM_145280.5:c.229G>T, NM_145280.5:c.229G>A, NM_145280.4:c.229G>T, NM_145280.4:c.229G>A, XM_005246337.5:c.229G>T, XM_005246337.5:c.229G>A, XM_005246337.4:c.229G>T, XM_005246337.4:c.229G>A, XM_005246337.3:c.229G>T, XM_005246337.3:c.229G>A, XM_005246337.2:c.229G>T, XM_005246337.2:c.229G>A, XM_005246337.1:c.229G>T, XM_005246337.1:c.229G>A, NM_001127395.5:c.229G>T, NM_001127395.5:c.229G>A, NM_001127395.4:c.229G>T, NM_001127395.4:c.229G>A, NM_001127395.3:c.229G>T, NM_001127395.3:c.229G>A, NM_001127395.2:c.229G>T, NM_001127395.2:c.229G>A, NM_001127395.1:c.229G>T, NM_001127395.1:c.229G>A, XM_006712327.4:c.229G>T, XM_006712327.4:c.229G>A, XM_006712327.3:c.229G>T, XM_006712327.3:c.229G>A, XM_006712327.2:c.229G>T, XM_006712327.2:c.229G>A, XM_006712327.1:c.229G>T, XM_006712327.1:c.229G>A, XM_005246336.4:c.229G>T, XM_005246336.4:c.229G>A, XM_005246336.3:c.229G>T, XM_005246336.3:c.229G>A, XM_005246336.2:c.229G>T, XM_005246336.2:c.229G>A, XM_005246336.1:c.229G>T, XM_005246336.1:c.229G>A, XM_011510728.4:c.304G>T, XM_011510728.4:c.304G>A, XM_011510728.3:c.304G>T, XM_011510728.3:c.304G>A, XM_011510728.2:c.304G>T, XM_011510728.2:c.304G>A, XM_011510728.1:c.304G>T, XM_011510728.1:c.304G>A, XM_011510724.3:c.304G>T, XM_011510724.3:c.304G>A, XM_011510724.2:c.304G>T, XM_011510724.2:c.304G>A, XM_011510724.1:c.304G>T, XM_011510724.1:c.304G>A, XM_011510725.3:c.304G>T, XM_011510725.3:c.304G>A, XM_011510725.2:c.304G>T, XM_011510725.2:c.304G>A, XM_011510725.1:c.304G>T, XM_011510725.1:c.304G>A, NM_001330133.3:c.229G>T, NM_001330133.3:c.229G>A, NM_001330133.2:c.229G>T, NM_001330133.2:c.229G>A, NM_001330133.1:c.229G>T, NM_001330133.1:c.229G>A, NM_001330132.3:c.229G>T, NM_001330132.3:c.229G>A, NM_001330132.2:c.229G>T, NM_001330132.2:c.229G>A, NM_001330132.1:c.229G>T, NM_001330132.1:c.229G>A, NM_001330136.3:c.229G>T, NM_001330136.3:c.229G>A, NM_001330136.2:c.229G>T, NM_001330136.2:c.229G>A, NM_001330136.1:c.229G>T, NM_001330136.1:c.229G>A, NM_001308021.3:c.229G>T, NM_001308021.3:c.229G>A, NM_001308021.2:c.229G>T, NM_001308021.2:c.229G>A, NM_001308021.1:c.229G>T, NM_001308021.1:c.229G>A, NM_001330134.2:c.229G>T, NM_001330134.2:c.229G>A, NM_001330134.1:c.229G>T, NM_001330134.1:c.229G>A, NM_001330137.2:c.229G>T, NM_001330137.2:c.229G>A, NM_001330137.1:c.229G>T, NM_001330137.1:c.229G>A, NM_001330130.2:c.229G>T, NM_001330130.2:c.229G>A, NM_001330130.1:c.229G>T, NM_001330130.1:c.229G>A, XM_024452721.2:c.229G>T, XM_024452721.2:c.229G>A, XM_024452721.1:c.229G>T, XM_024452721.1:c.229G>A, XM_024452722.2:c.229G>T, XM_024452722.2:c.229G>A, XM_024452722.1:c.229G>T, XM_024452722.1:c.229G>A, NM_001330131.2:c.229G>T, NM_001330131.2:c.229G>A, NM_001330131.1:c.229G>T, NM_001330131.1:c.229G>A, NM_001330135.2:c.229G>T, NM_001330135.2:c.229G>A, NM_001330135.1:c.229G>T, NM_001330135.1:c.229G>A, NM_001388439.2:c.229G>T, NM_001388439.2:c.229G>A, NM_001388439.1:c.229G>T, NM_001388439.1:c.229G>A, NM_001388425.1:c.229G>T, NM_001388425.1:c.229G>A, NM_001393569.1:c.229G>T, NM_001393569.1:c.229G>A, NM_001393571.1:c.229G>T, NM_001393571.1:c.229G>A, NM_001393568.1:c.229G>T, NM_001393568.1:c.229G>A, NM_001393574.1:c.229G>T, NM_001393574.1:c.229G>A, NM_001393570.1:c.229G>T, NM_001393570.1:c.229G>A, NM_001393572.1:c.229G>T, NM_001393572.1:c.229G>A, NM_001393575.1:c.229G>T, NM_001393575.1:c.229G>A, NM_001388427.1:c.229G>T, NM_001388427.1:c.229G>A, NM_001393573.1:c.229G>T, NM_001393573.1:c.229G>A, NM_001393565.1:c.229G>T, NM_001393565.1:c.229G>A, NM_001393566.1:c.229G>T, NM_001393566.1:c.229G>A, NM_001393564.1:c.229G>T, NM_001393564.1:c.229G>A, XM_047443497.1:c.229G>T, XM_047443497.1:c.229G>A, XM_047443496.1:c.304G>T, XM_047443496.1:c.304G>A, NM_001393563.1:c.229G>T, NM_001393563.1:c.229G>A, NM_001393567.1:c.229G>T, NM_001393567.1:c.229G>A, XM_047443499.1:c.229G>T, XM_047443499.1:c.229G>A, XM_047443498.1:c.304G>T, XM_047443498.1:c.304G>A, NP_660323.3:p.Gly77Trp, NP_660323.3:p.Gly77Arg, XP_005246394.1:p.Gly77Trp, XP_005246394.1:p.Gly77Arg, NP_001120867.1:p.Gly77Trp, NP_001120867.1:p.Gly77Arg, XP_006712390.1:p.Gly77Trp, XP_006712390.1:p.Gly77Arg, XP_005246393.1:p.Gly77Trp, XP_005246393.1:p.Gly77Arg, XP_011509030.1:p.Gly102Trp, XP_011509030.1:p.Gly102Arg, XP_011509026.1:p.Gly102Trp, XP_011509026.1:p.Gly102Arg, XP_011509027.1:p.Gly102Trp, XP_011509027.1:p.Gly102Arg, NP_001317062.1:p.Gly77Trp, NP_001317062.1:p.Gly77Arg, NP_001317061.1:p.Gly77Trp, NP_001317061.1:p.Gly77Arg, NP_001317065.1:p.Gly77Trp, NP_001317065.1:p.Gly77Arg, NP_001294950.1:p.Gly77Trp, NP_001294950.1:p.Gly77Arg, NP_001317063.1:p.Gly77Trp, NP_001317063.1:p.Gly77Arg, NP_001317066.1:p.Gly77Trp, NP_001317066.1:p.Gly77Arg, NP_001317059.1:p.Gly77Trp, NP_001317059.1:p.Gly77Arg, XP_024308489.1:p.Gly77Trp, XP_024308489.1:p.Gly77Arg, XP_024308490.1:p.Gly77Trp, XP_024308490.1:p.Gly77Arg, NP_001317060.1:p.Gly77Trp, NP_001317060.1:p.Gly77Arg, NP_001317064.1:p.Gly77Trp, NP_001317064.1:p.Gly77Arg, NP_001375368.1:p.Gly77Trp, NP_001375368.1:p.Gly77Arg, NP_001380498.1:p.Gly77Trp, NP_001380498.1:p.Gly77Arg, NP_001380500.1:p.Gly77Trp, NP_001380500.1:p.Gly77Arg, NP_001380497.1:p.Gly77Trp, NP_001380497.1:p.Gly77Arg, NP_001380503.1:p.Gly77Trp, NP_001380503.1:p.Gly77Arg, NP_001380499.1:p.Gly77Trp, NP_001380499.1:p.Gly77Arg, NP_001380501.1:p.Gly77Trp, NP_001380501.1:p.Gly77Arg, NP_001380504.1:p.Gly77Trp, NP_001380504.1:p.Gly77Arg, NP_001375356.1:p.Gly77Trp, NP_001375356.1:p.Gly77Arg, NP_001380502.1:p.Gly77Trp, NP_001380502.1:p.Gly77Arg, NP_001380494.1:p.Gly77Trp, NP_001380494.1:p.Gly77Arg, NP_001380495.1:p.Gly77Trp, NP_001380495.1:p.Gly77Arg, NP_001380493.1:p.Gly77Trp, NP_001380493.1:p.Gly77Arg, XP_047299453.1:p.Gly77Trp, XP_047299453.1:p.Gly77Arg, XP_047299452.1:p.Gly102Trp, XP_047299452.1:p.Gly102Arg, NP_001380492.1:p.Gly77Trp, NP_001380492.1:p.Gly77Arg, NP_001380496.1:p.Gly77Trp, NP_001380496.1:p.Gly77Arg, XP_047299455.1:p.Gly77Trp, XP_047299455.1:p.Gly77Arg, XP_047299454.1:p.Gly102Trp, XP_047299454.1:p.Gly102Arg

                                    18.

                                    rs1326287800 [Homo sapiens]
                                      Variant type:
                                      DELINS
                                      Alleles:
                                      ACCA>- [Show Flanks]
                                      Chromosome:
                                      2:207624239 (GRCh38)
                                      2:208488963 (GRCh37)
                                      Canonical SPDI:
                                      NC_000002.12:207624237:AACCA:A
                                      Gene:
                                      METTL21A (Varview)
                                      Functional Consequence:
                                      coding_sequence_variant,frameshift_variant
                                      Validated:
                                      by frequency,by alfa,by cluster
                                      MAF:
                                      A=0./0 (ALFA)
                                      -=0.000004/1 (TOPMED)
                                      -=0.000008/2 (GnomAD_exomes)
                                      HGVS:
                                      NC_000002.12:g.207624239_207624242del, NC_000002.11:g.208488963_208488966del, NM_145280.7:c.135_138del, NM_145280.6:c.135_138del, NM_145280.5:c.135_138del, NM_145280.4:c.135_138del, XM_005246337.5:c.135_138del, XM_005246337.4:c.135_138del, XM_005246337.3:c.135_138del, XM_005246337.2:c.135_138del, XM_005246337.1:c.135_138del, NM_001127395.5:c.135_138del, NM_001127395.4:c.135_138del, NM_001127395.3:c.135_138del, NM_001127395.2:c.135_138del, NM_001127395.1:c.135_138del, XM_006712327.4:c.135_138del, XM_006712327.3:c.135_138del, XM_006712327.2:c.135_138del, XM_006712327.1:c.135_138del, XM_005246336.4:c.135_138del, XM_005246336.3:c.135_138del, XM_005246336.2:c.135_138del, XM_005246336.1:c.135_138del, XM_011510728.4:c.210_213del, XM_011510728.3:c.210_213del, XM_011510728.2:c.210_213del, XM_011510728.1:c.210_213del, XM_011510724.3:c.210_213del, XM_011510724.2:c.210_213del, XM_011510724.1:c.210_213del, XM_011510725.3:c.210_213del, XM_011510725.2:c.210_213del, XM_011510725.1:c.210_213del, NM_001330133.3:c.135_138del, NM_001330133.2:c.135_138del, NM_001330133.1:c.135_138del, NM_001330132.3:c.135_138del, NM_001330132.2:c.135_138del, NM_001330132.1:c.135_138del, NM_001330136.3:c.135_138del, NM_001330136.2:c.135_138del, NM_001330136.1:c.135_138del, NM_001308021.3:c.135_138del, NM_001308021.2:c.135_138del, NM_001308021.1:c.135_138del, NM_001330134.2:c.135_138del, NM_001330134.1:c.135_138del, NM_001330137.2:c.135_138del, NM_001330137.1:c.135_138del, NM_001330130.2:c.135_138del, NM_001330130.1:c.135_138del, XM_024452721.2:c.135_138del, XM_024452721.1:c.135_138del, XM_024452722.2:c.135_138del, XM_024452722.1:c.135_138del, NM_001330131.2:c.135_138del, NM_001330131.1:c.135_138del, NM_001330135.2:c.135_138del, NM_001330135.1:c.135_138del, NM_001388439.2:c.135_138del, NM_001388439.1:c.135_138del, NM_001388425.1:c.135_138del, NM_001393569.1:c.135_138del, NM_001393571.1:c.135_138del, NM_001393568.1:c.135_138del, NM_001393574.1:c.135_138del, NM_001393570.1:c.135_138del, NM_001393572.1:c.135_138del, NM_001393575.1:c.135_138del, NM_001388427.1:c.135_138del, NM_001393573.1:c.135_138del, NM_001393565.1:c.135_138del, NM_001393566.1:c.135_138del, NM_001393564.1:c.135_138del, XM_047443497.1:c.135_138del, XM_047443496.1:c.210_213del, NM_001393563.1:c.135_138del, NM_001393567.1:c.135_138del, XM_047443499.1:c.135_138del, XM_047443498.1:c.210_213del, NP_660323.3:p.Val46fs, XP_005246394.1:p.Val46fs, NP_001120867.1:p.Val46fs, XP_006712390.1:p.Val46fs, XP_005246393.1:p.Val46fs, XP_011509030.1:p.Val71fs, XP_011509026.1:p.Val71fs, XP_011509027.1:p.Val71fs, NP_001317062.1:p.Val46fs, NP_001317061.1:p.Val46fs, NP_001317065.1:p.Val46fs, NP_001294950.1:p.Val46fs, NP_001317063.1:p.Val46fs, NP_001317066.1:p.Val46fs, NP_001317059.1:p.Val46fs, XP_024308489.1:p.Val46fs, XP_024308490.1:p.Val46fs, NP_001317060.1:p.Val46fs, NP_001317064.1:p.Val46fs, NP_001375368.1:p.Val46fs, NP_001380498.1:p.Val46fs, NP_001380500.1:p.Val46fs, NP_001380497.1:p.Val46fs, NP_001380503.1:p.Val46fs, NP_001380499.1:p.Val46fs, NP_001380501.1:p.Val46fs, NP_001380504.1:p.Val46fs, NP_001375356.1:p.Val46fs, NP_001380502.1:p.Val46fs, NP_001380494.1:p.Val46fs, NP_001380495.1:p.Val46fs, NP_001380493.1:p.Val46fs, XP_047299453.1:p.Val46fs, XP_047299452.1:p.Val71fs, NP_001380492.1:p.Val46fs, NP_001380496.1:p.Val46fs, XP_047299455.1:p.Val46fs, XP_047299454.1:p.Val71fs

                                      19.

                                      rs1322926051 [Homo sapiens]
                                        Variant type:
                                        SNV
                                        Alleles:
                                        G>C [Show Flanks]
                                        Chromosome:
                                        2:207624302 (GRCh38)
                                        2:208489026 (GRCh37)
                                        Canonical SPDI:
                                        NC_000002.12:207624301:G:C
                                        Gene:
                                        METTL21A (Varview)
                                        Functional Consequence:
                                        coding_sequence_variant,missense_variant
                                        Validated:
                                        by frequency,by alfa,by cluster
                                        MAF:
                                        C=0./0 (ALFA)
                                        C=0.000007/1 (GnomAD)
                                        C=0.000011/3 (TOPMED)
                                        HGVS:
                                        NC_000002.12:g.207624302G>C, NC_000002.11:g.208489026G>C, NM_145280.7:c.74C>G, NM_145280.6:c.74C>G, NM_145280.5:c.74C>G, NM_145280.4:c.74C>G, XM_005246337.5:c.74C>G, XM_005246337.4:c.74C>G, XM_005246337.3:c.74C>G, XM_005246337.2:c.74C>G, XM_005246337.1:c.74C>G, NM_001127395.5:c.74C>G, NM_001127395.4:c.74C>G, NM_001127395.3:c.74C>G, NM_001127395.2:c.74C>G, NM_001127395.1:c.74C>G, XM_006712327.4:c.74C>G, XM_006712327.3:c.74C>G, XM_006712327.2:c.74C>G, XM_006712327.1:c.74C>G, XM_005246336.4:c.74C>G, XM_005246336.3:c.74C>G, XM_005246336.2:c.74C>G, XM_005246336.1:c.74C>G, XM_011510728.4:c.149C>G, XM_011510728.3:c.149C>G, XM_011510728.2:c.149C>G, XM_011510728.1:c.149C>G, XM_011510724.3:c.149C>G, XM_011510724.2:c.149C>G, XM_011510724.1:c.149C>G, XM_011510725.3:c.149C>G, XM_011510725.2:c.149C>G, XM_011510725.1:c.149C>G, NM_001330133.3:c.74C>G, NM_001330133.2:c.74C>G, NM_001330133.1:c.74C>G, NM_001330132.3:c.74C>G, NM_001330132.2:c.74C>G, NM_001330132.1:c.74C>G, NM_001330136.3:c.74C>G, NM_001330136.2:c.74C>G, NM_001330136.1:c.74C>G, NM_001308021.3:c.74C>G, NM_001308021.2:c.74C>G, NM_001308021.1:c.74C>G, NM_001330134.2:c.74C>G, NM_001330134.1:c.74C>G, NM_001330137.2:c.74C>G, NM_001330137.1:c.74C>G, NM_001330130.2:c.74C>G, NM_001330130.1:c.74C>G, XM_024452721.2:c.74C>G, XM_024452721.1:c.74C>G, XM_024452722.2:c.74C>G, XM_024452722.1:c.74C>G, NM_001330131.2:c.74C>G, NM_001330131.1:c.74C>G, NM_001330135.2:c.74C>G, NM_001330135.1:c.74C>G, NM_001388439.2:c.74C>G, NM_001388439.1:c.74C>G, NM_001388425.1:c.74C>G, NM_001393569.1:c.74C>G, NM_001393571.1:c.74C>G, NM_001393568.1:c.74C>G, NM_001393574.1:c.74C>G, NM_001393570.1:c.74C>G, NM_001393572.1:c.74C>G, NM_001393575.1:c.74C>G, NM_001388427.1:c.74C>G, NM_001393573.1:c.74C>G, NM_001393565.1:c.74C>G, NM_001393566.1:c.74C>G, NM_001393564.1:c.74C>G, XM_047443497.1:c.74C>G, XM_047443496.1:c.149C>G, NM_001393563.1:c.74C>G, NM_001393567.1:c.74C>G, XM_047443499.1:c.74C>G, XM_047443498.1:c.149C>G, NP_660323.3:p.Ser25Cys, XP_005246394.1:p.Ser25Cys, NP_001120867.1:p.Ser25Cys, XP_006712390.1:p.Ser25Cys, XP_005246393.1:p.Ser25Cys, XP_011509030.1:p.Ser50Cys, XP_011509026.1:p.Ser50Cys, XP_011509027.1:p.Ser50Cys, NP_001317062.1:p.Ser25Cys, NP_001317061.1:p.Ser25Cys, NP_001317065.1:p.Ser25Cys, NP_001294950.1:p.Ser25Cys, NP_001317063.1:p.Ser25Cys, NP_001317066.1:p.Ser25Cys, NP_001317059.1:p.Ser25Cys, XP_024308489.1:p.Ser25Cys, XP_024308490.1:p.Ser25Cys, NP_001317060.1:p.Ser25Cys, NP_001317064.1:p.Ser25Cys, NP_001375368.1:p.Ser25Cys, NP_001380498.1:p.Ser25Cys, NP_001380500.1:p.Ser25Cys, NP_001380497.1:p.Ser25Cys, NP_001380503.1:p.Ser25Cys, NP_001380499.1:p.Ser25Cys, NP_001380501.1:p.Ser25Cys, NP_001380504.1:p.Ser25Cys, NP_001375356.1:p.Ser25Cys, NP_001380502.1:p.Ser25Cys, NP_001380494.1:p.Ser25Cys, NP_001380495.1:p.Ser25Cys, NP_001380493.1:p.Ser25Cys, XP_047299453.1:p.Ser25Cys, XP_047299452.1:p.Ser50Cys, NP_001380492.1:p.Ser25Cys, NP_001380496.1:p.Ser25Cys, XP_047299455.1:p.Ser25Cys, XP_047299454.1:p.Ser50Cys

                                        20.

                                        rs1315825564 [Homo sapiens]
                                          Variant type:
                                          SNV
                                          Alleles:
                                          A>G [Show Flanks]
                                          Chromosome:
                                          2:207582156 (GRCh38)
                                          2:208446880 (GRCh37)
                                          Canonical SPDI:
                                          NC_000002.12:207582155:A:G
                                          Gene:
                                          CREB1 (Varview), METTL21A (Varview)
                                          Functional Consequence:
                                          intron_variant,synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
                                          Validated:
                                          by frequency,by alfa,by cluster
                                          MAF:
                                          G=0./0 (ALFA)
                                          G=0.000004/1 (TOPMED)
                                          G=0.000007/1 (GnomAD)
                                          HGVS:

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